KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
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Purpose Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported.Methods We obtained data for patients with KAT6A pathogenic variants through three sources: treating clinicians, an online family survey distributed through social media, and a literature review.Results We identified 52 unreported cases, bringing the total number of published cases to 76. Our results expand the genotypic spectrum of pathogenic variants to include missense and splicing mutations. We functionally validated a pathogenic splice-site variant and identified a likely hotspot location for de novo missense variants. The majority of clinical features in KAT6A syndrome have highly variable penetrance. For core features such as intellectual disability, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications, genotype- phenotype correlations show that late-truncating pathogenic variants (exons 16-17) are significantly more prevalent. We highlight novel associations, including an increased risk of gastrointestinal obstruction.Conclusion Our data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management.
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Interactions between researchers and families with rare disease have enabled natural history studies driven by family support groups that initiate data collection once a causal gene is discovered.
“Interactions between researchers and families with rare disease have enabled natural history studies to be driven by family support groups positioned to initiate data collection from patient cohorts once a causal gene is discovered20.”
From A brief history of human disease genetics (2020) · cites this paper as [20]
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A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
UniProt: the Universal Protein knowledgebase
Apweiler, R. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkh131 · Cited by 7,535 · see citing works
Kumar, P., Henikoff, S., & Ng, P. C. (2009) · Nature Protocols · doi:10.1038/nprot.2009.86 · Cited by 6,521 · see citing works
A general framework for estimating the relative pathogenicity of human genetic variants
Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M., & Shendure, J. (2014) · Nature Genetics · doi:10.1038/ng.2892 · Cited by 6,183 · see citing works
UniProt: the universal protein knowledgebase
The UniProt Consortium (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1099 · Cited by 4,436 · see citing works
On the Interpretation of χ 2 from Contingency Tables, and the Calculation of P
Fisher, R. A. (1922) · Journal Of The Royal Statistical Society · doi:10.2307/2340521 · Cited by 2,975 · see citing works
Prevalence and architecture of de novo mutations in developmental disorders
Study, D. D. D. (2017) · Nature · doi:10.1038/nature21062 · Cited by 1,480 · see citing works
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero‐Rivera, F., Das, K., Toy, T. L., Harry, B., Yourshaw, M., et al. (2014) · JAMA · doi:10.1001/jama.2014.14604 · Cited by 969 · see citing works
Self-citationResolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban‐Akdemir, Z., Walkiewicz, M. A., Bi, W., Xiao, R., Ding, Y., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1516767 · Cited by 772 · see citing works
Wright, C. F., Fitzgerald, T. W., Jones, W. D., Clayton, S., McRae, J. F., van Kogelenberg, M., King, D. A., Ambridge, K., Barrett, D. M., Bayzetinova, T., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(14)61705-0 · Cited by 728 · see citing works
The MYST family of histone acetyltransferases and their intimate links to cancer
Avvakumov, N., & Côté, J. (2007) · Oncogene · doi:10.1038/sj.onc.1210608 · Cited by 356 · see citing works
MYST-family histone acetyltransferases: beyond chromatin
Sapountzi, V., & Côté, J. (2010) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-010-0599-9 · Cited by 211 · see citing works
Clayton‐Smith, J., O’Sullivan, J., Daly, S. B., Bhaskar, S. S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.10.008 · Cited by 184 · see citing works
Self-citationThomas, T., Corcoran, L. M., Gugasyan, R., Dixon, M. P., Brodnicki, T. C., Nutt, S. L., Metcalf, D., & Voss, A. K. (2006) · Genes & Development · doi:10.1101/gad.1382606 · Cited by 183 · see citing works
Voss, A. K., Collin, C., Dixon, M. P., & Thomas, T. (2009) · Developmental Cell · doi:10.1016/j.devcel.2009.10.006 · Cited by 179 · see citing works
Arboleda, V. A., Lee, H., Dorrani, N., Zadeh, N., Willis, M. J. H., Macmurdo, C., Manning, M. A., Hanson‐Kahn, A., Hudgins, L., Barthélémy, F., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.01.017 · Cited by 141 · see citing works
Self-citationDominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
Tham, E., Lindstrand, A., Santani, A., Malmgren, H., Nesbitt, A. I., Dubbs, H. A., Zackai, E. H., Parker, M. J., Millan, F., Rosenbaum, K. N., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.01.016 · Cited by 141 · see citing works
MOZ and MORF acetyltransferases: Molecular interaction, animal development and human disease
Yang, X. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.04.014 · Cited by 135 · see citing works
The continuum of causality in human genetic disorders
Katsanis, N. (2016) · Genome biology · doi:10.1186/s13059-016-1107-9 · Cited by 124 · see citing works
Pérez-Campo, F. M., Borrow, J., Kouskoff, V., & Lacaud, G. (2009) · Blood · doi:10.1182/blood-2008-04-152017 · Cited by 100 · see citing works
Yan, K., Rousseau, J., Littlejohn, R. O., Kiss, C., Lehman, A., Rosenfeld, J. A., Schrander-Stumpel, C. T. R. M., Stegmann, A. P. A., Robak, L. A., Scaglia, F., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.11.011 · Cited by 97 · see citing works
Self-citationCampeau, P. M., Lu, J. T., Dawson, B., Fokkema, I. F. A. C., Robertson, S. P., Gibbs, R. A., & Lee, B. (2012) · Human Mutation · doi:10.1002/humu.22141 · Cited by 85 · see citing works
Regulation of germinal center responses and B-cell memory by the chromatin modifier MOZ
Good-Jacobson, K. L., Chen, Y., Voss, A. K., Smyth, G. K., Thomas, T., & Tarlinton, D. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1402485111 · Cited by 64 · see citing works
Mattioli, F., Schaefer, É., Magee, A. C., Mark, P. R., Mancini, G. M. S., Dieterich, K. D., Allmen, G. V., Alders, M. M., Coutton, C., van Slegtenhorst, M., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.11.010 · Cited by 64 · see citing works
Millan, F., Cho, M. T., Retterer, K., Monaghan, K. G., Bai, R., Vitazka, P., Everman, D. B., Smith, B. T., Angle, B., Roberts, V., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37670 · Cited by 60 · see citing works
Szakszon, K., Salpietro, C. D., Kakar, N., Knegt, A. C., Oláh, É., Dallapiccola, B., & Borck, G. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35848 · Cited by 44 · see citing works
Wang, R. T., Fadlon, C. S., Ulm, J. W., Janković, I., Eskin, A., Lu, A. T.-H., Miller, V. R., Cantor, R. M., Li, N., Elashoff, R. E., et al. (2014) · PLoS Currents · doi:10.1371/currents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a · Cited by 36 · see citing works
Self-citationGauthier, A., Thauvin‐Robinet, C., Bruel, A., Duffourd, Y., St‐Onge, J., Jouan, T., Rivière, J., Héron, D., Donadieu, J., Bellanné‐Chantelot, C., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37969 · Cited by 34 · see citing works
Murray, C. R., Abel, S., McClure, M., Foster, J. M., Walke, M., Jayakar, P., Bademci, G., & Tekin, M. (2017) · Journal of Pediatric Genetics · doi:10.1055/s-0037-1598639 · Cited by 34 · see citing works
Acetylation of the Cd8 Locus by KAT6A Determines Memory T Cell Diversity
Newman, D. M., Sakaguchi, S., Lun, A. T. L., Preston, S., Pellegrini, M., Khamina, K., Bergthaler, A., Nutt, S. L., Smyth, G. K., Voss, A. K., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.08.056 · Cited by 32 · see citing works
Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
Lonardo, F., Lonardo, M. S., Acquaviva, F., Monica, M. D., Scarano, F., & Scarano, G. (2017) · Clinical Genetics · doi:10.1111/cge.13127 · Cited by 30 · see citing works
Variants in KAT6A and pituitary anomalies
Zwaveling‐Soonawala, N., Maas, S. M., Alders, M. M., Majoie, C. B. L. M., Fliers, E., van Trotsenburg, A. S. P., & Hennekam, R. C. M. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38330 · Cited by 19 · see citing works
Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism
Satoh, C., Maekawa, R., Kinoshita, A., Mishima, H., Doi, M., Miyazaki, M., Fukuda, M., Takahashi, H., Kondoh, T., & Yoshiura, K.-I. (2017) · Human Genome Variation · doi:10.1038/hgv.2017.45 · Cited by 15 · see citing works
Food allergy in a child with de novo KAT6A mutation
Elenius, V., Lähdesmäki, T., Hietala, M., & Jartti, T. T. (2017) · Clinical and Translational Allergy · doi:10.1186/s13601-017-0155-x · Cited by 12 · see citing works
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- [22]Arboleda VALH, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning M, Kwan A, Hudgins L, Strom SP, Deignan JL, UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. De novo nonsense variants in KAT6A, a Lysine Acetyl-Transferase gene, causes a syndrome including Microcephaly and Global Developmental Delay. Paper presented at: 36th Annual David W. Smith Workshop on Malformations and Morphogenesis; August 17, 2015, 2015; St. Michaels, Maryland.
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Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
Kingdom, R., & Wright, C. F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.920390 · Cited by 294 · see citing works
The key roles of the lysine acetyltransferases KAT6A and KAT6B in physiology and pathology
Wiesel‐Motiuk, N., & Assaraf, Y. G. (2020) · Drug Resistance Updates · doi:10.1016/j.drup.2020.100729 · Cited by 118 · see citing works
Mossink, B., Negwer, M., Schubert, D., & Nadif Kasri, N. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03714-5 · Cited by 114 · see citing works
Yan, K., Rousseau, J., Machol, K., Cross, L., Agre, K. E., Gibson, C. F., Goverde, A., Engleman, K. L., Verdin, H., Baere, E. D., et al. (2020) · Science Advances · doi:10.1126/sciadv.aax0021 · Cited by 107 · see citing works
Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation · doi:10.1002/humu.24446 · Cited by 76 · see citing works
Self-citationCasingal, C. R., Kikkawa, T., Inada, H., Sasaki, Y., & Osumi, N. (2020) · Molecular Brain · doi:10.1186/s13041-020-00706-1 · Cited by 69 · see citing works
Fallah, M. S., Szarics, D., Robson, C. M., & Eubanks, J. H. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2020.613098 · Cited by 57 · see citing works
Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review
Miller, E. G., Woodward, A. L., Flinchum, G., Young, J. L., Tabor, H. K., & Halley, M. C. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01273-z · Cited by 46 · see citing works
Matthews, H. S., Palmer, R., Baynam, G. S., Quarrell, O., Klein, O. D., Spritz, R. A., Hennekam, R. C. M., Walsh, S., Shriver, M. D., Weinberg, S. M., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-91465-z · Cited by 43 · see citing works
Humbert, J., Salian, S., Makrythanasis, P., Lemire, G., Rousseau, J., Ehresmann, S., Garcia, T., Alasiri, R., Bottani, A., Hanquinet, S., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.08.002 · Cited by 38 · see citing works
Weber, L. M., Jia, Y., Stielow, B., Gisselbrecht, S. S., Cao, Y., Ren, Y., Rohner, I., King, J. E., Rothman, E., Fischer, S., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac1188 · Cited by 37 · see citing works
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Zhang, M., Zhao, J., Lv, Y., Wang, W., Feng, C., Zou, W., Su, L., & Jiao, J. (2020) · Trends in Cell Biology · doi:10.1016/j.tcb.2020.09.003 · Cited by 37 · see citing works
Urreizti, R., Martín, E. L., Martínez‐Monseny, A. F., Montse, P., Castilla‐Vallmanya, L., Jurado, L. A. P., Serrano, M., Benito, D. N., Martínez–Delgado, B., de la Paz, M. P., et al. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-1317-9 · Cited by 36 · see citing works
BRPF1-KAT6A/KAT6B Complex: Molecular Structure, Biological Function and Human Disease
Zu, G., Liu, Y., Cao, J., Zhao, B., Zhang, H., & You, L. (2022) · Cancers · doi:10.3390/cancers14174068 · Cited by 32 · see citing works
John, M. S., Amor, D. J., & Morgan, A. T. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62899 · Cited by 32 · see citing works
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Villalón-García, I., Álvarez-Córdoba, M., Suarez-Rivero, J. M., Povea-Cabello, S., Talaverón-Rey, M., Suárez-Carrillo, A., Munuera-Cabeza, M., & Sánchez-Alcázar, J. A. (2020) · Diseases · doi:10.3390/diseases8040042 · Cited by 33 · see citing works
Reprogramming of the epigenome in neurodevelopmental disorders
Wilson, K., Porter, E. G. P., & Garcia, B. A. (2021) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.1080/10409238.2021.1979457 · Cited by 27 · see citing works
Provenzano, A., Barbera, A. L., Scagnet, M., Pagliazzi, A., Traficante, G., Pantaleo, M., Tiberi, L., Vergani, D., Kurtas, N. E., Guarducci, S., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02231-6 · Cited by 26 · see citing works
Huang, L., Qi, C., Zhu, G., Ding, J., Li, Y., Sun, J., He, X., & Wang, X. (2022) · Molecular Genetics and Genomics · doi:10.1007/s00438-022-01897-z · Cited by 26 · see citing works
Viita, T., & Côté, J. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.1115903 · Cited by 22 · see citing works
Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue
Janowski, M., Milewska, M., Zare, P., & Pękowska, A. (2021) · Pharmaceuticals · doi:10.3390/ph14080765 · Cited by 21 · see citing works
Sleep, Behavior, and Adaptive Function in KAT6A Syndrome
Smith, C., & Harris, J. R. (2021) · Brain Sciences · doi:10.3390/brainsci11080966 · Cited by 19 · see citing works
The omics era: a nexus of untapped potential for Mendelian chromatinopathies
Nava, A. A., & Arboleda, V. A. (2023) · Human Genetics · doi:10.1007/s00439-023-02560-2 · Cited by 19 · see citing works
Self-citationEpigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery
Ng, R., Kalinousky, A. J., & Harris, J. R. (2023) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-023-09482-0 · Cited by 19 · see citing works
Vervoort, I., Delger, C., & Soubry, A. (2021) · Pediatric Research · doi:10.1038/s41390-021-01435-4 · Cited by 16 · see citing works
Rosenberg, A. G. W., Pater, M. R. A., Pellikaan, K., Davidse, K., Kattentidt‐Mouravieva, A. A., Kersseboom, R., Bos‐Roubos, A. G., van Eeghen, A. M., Veen-Roelofs, J. M. C., van der Meulen, J. J., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10225457 · Cited by 19 · see citing works
Bae, S., Yang, A., Kim, J., Lee, H. J., & Park, H. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-01148-x · Cited by 15 · see citing works
Sheridan, M., Maqbool, M. A., Largeot, A., Clayfield, L., Xu, J., Moncaut, N., Sellers, R., Whittle, J., Paggetti, J., Iqbal, M., et al. (2024) · Journal of Hematology & Oncology · doi:10.1186/s13045-024-01610-0 · Cited by 14 · see citing works
Spendlove, S. J., Bondhus, L., Lluri, G., Sul, J. H., & Arboleda, V. A. (2022) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2022.100112 · Cited by 14 · see citing works
Self-citationLiu, Y., Fan, M., Yang, J., Mihaljević, L., Chen, K. H., Ye, Y., Sun, S., & Qiu, Z. (2024) · Science Advances · doi:10.1126/sciadv.adm9326 · Cited by 14 · see citing works
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Singh, M., Spendlove, S. J., Wei, A., Bondhus, L., Nava, A. A., Vitorino, F. N. D. L., Amano, S., Lee, J., Echeverria, G., Gomez, D., et al. (2023) · Human Genetics · doi:10.1007/s00439-023-02608-3 · Cited by 13 · see citing works
Self-citationThe value of genome-wide analysis in craniosynostosis
Topa, A., Rohlin, A., Fehr, A., Lovmar, L., Stenman, G., Tarnow, P., Maltese, G., Bhatti-Søfteland, M., & Kölby, L. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2023.1322462 · Cited by 14 · see citing works
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DeGorter, M. K., Goddard, P. C., Karakoç, E., Kundu, S., Yan, S. M., Nachun, D. C., Abell, N. S., Aguirre, M., Carstensen, T., Chen, Z., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.04.564839 · Cited by 13 · see citing works
Xian, W., Cao, J., Yuan, X.-S., Wang, G., Jin, Q., Zhang, H., Zhou, G., & You, L. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.711792 · Cited by 12 · see citing works
Stachowiak, M., Nowacka‐Woszuk, J., Szabelska‐Beręsewicz, A., Zyprych-Walczak, J., Krzemińska, P., Sosinski, O., Nowak, T., & Switonski, M. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2312724121 · Cited by 12 · see citing works
Lin, Y., Lin, T.-C., Kirby, R., Weng, H., Liu, Y.-M., Niu, D., Tsai, S., & Yang, C. (2020) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2020.100686 · Cited by 12 · see citing works
Jiang, M., Yang, L., Wu, J., Xiong, F., & Li, J. (2021) · Translational Pediatrics · doi:10.21037/tp-21-206 · Cited by 10 · see citing works
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature
Troisi, S., Maitz, S. B., Severino, M., Spano, A., Cappuccio, G., Brunetti‐Pierri, N., Torella, A., Nigro, V., Tudp, Bilo, L., et al. (2021) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2021.104380 · Cited by 11 · see citing works
Souza, J., do Valle, D. A., Santos, M. L. S. F., Colomé, F. B., Teive, H. A. G., Freitas, R. D. S., & Herai, R. H. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62706 · Cited by 11 · see citing works
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Ng, R., Kalinousky, A. J., & Harris, J. R. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03175-0 · Cited by 10 · see citing works
Zhao, B., Zhang, H., Liu, Y., Zu, G., Zhang, Y., Hu, J., Liu, S., & You, L. (2023) · Neural Regeneration Research · doi:10.4103/1673-5374.385307 · Cited by 10 · see citing works
Bondhus, L., Wei, A., & Arboleda, V. A. (2022) · BMC Bioinformatics · doi:10.1186/s12859-022-04899-1 · Cited by 9 · see citing works
Self-citationBukvić, N., Chetta, M., Bagnulo, R., Leotta, V., Pantaleo, A., Palumbo, O., Palumbo, P., Oro, M., Rivieccio, M., Laforgia, N., et al. (2023) · Genes · doi:10.3390/genes14010165 · Cited by 9 · see citing works
O’Keefe, R. A., Bhola, N. E., Lee, D. S., Johnson, D. E., & Grandis, J. R. (2020) · PLoS ONE · doi:10.1371/journal.pone.0227261 · Cited by 9 · see citing works
Vos, N., Reilly, J., Elting, M. W., Campeau, P. M., Coman, D. J., Stark, Z., Tan, T. Y., Amor, D. J., Kaur, S., John, M. S., et al. (2023) · Epigenomics · doi:10.2217/epi-2023-0079 · Cited by 8 · see citing works
Self-citationMah, S., Vanyai, H. K., Suen, C. S. N. L. W., Garnham, A. L., Wynn, J. E., Bergamasco, M., Malelang, S., Wilcox, S., Biben, C., Smyth, G. K., et al. (2024) · Development · doi:10.1242/dev.202617 · Cited by 8 · see citing works
Formicola, D., Podda, I., Dirupo, E., Andreucci, E., Giglio, S., Cipriani, P., Bombonato, C., Santorelli, F. M., & Chilosi, A. M. (2024) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1396240 · Cited by 8 · see citing works
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis
Marji, F. P., Hall, J. A., Anstadt, E., Madan‐Khetarpal, S., Goldstein, J. A., & Losee, J. E. (2020) · Journal of Pediatric Genetics · doi:10.1055/s-0040-1710330 · Cited by 8 · see citing works
Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome
Zeng, F., Yang, Y., Xu, Z., Wang, Z., Ke, H., Zhang, J., Dong, T., Yang, W., & Wang, J. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.990098 · Cited by 8 · see citing works
John, M. S., Tripathi, T., Morgan, A. T., & Amor, D. J. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105293 · Cited by 8 · see citing works
Roussel-Simonin, C., Fernández-Martínez, A., Postel-Vinay, S. C., Mosele, F., Viansone, A. A., Massard, C., Mouren, A., Vibert, J., & Pistilli, B. (2025) · npj Breast Cancer · doi:10.1038/s41523-025-00858-0 · Cited by 7 · see citing works
Gao, P., Zhao, K., Lu, W., Wang, L., & Zhang, P. (2022) · International Journal of Clinical Oncology · doi:10.1007/s10147-022-02231-8 · Cited by 7 · see citing works
NAA60 (HAT4): the newly discovered bi-functional Golgi member of the acetyltransferase family
Donnarumma, F., Tucci, V., Ambrosino, C., Altucci, L., & Carafa, V. (2022) · Clinical Epigenetics · doi:10.1186/s13148-022-01402-8 · Cited by 7 · see citing works
Ai, Q., Jiang, L., Chen, Y., Yao, X., Yin, J., & Chen, S. (2023) · Hematology · doi:10.1080/16078454.2023.2182159 · Cited by 7 · see citing works
Dysregulated histone acetylation causes congenital diseases
Matsushita, N. (2023) · Gene Reports · doi:10.1016/j.genrep.2023.101778 · Cited by 8 · see citing works
Wang, D., & Lai, P. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104082 · Cited by 7 · see citing works
Munuera-Cabeza, M., Álvarez-Córdoba, M., Suarez-Rivero, J. M., Povea-Cabello, S., Villalón-García, I., Talaverón-Rey, M., Suárez-Carrillo, A., Reche-López, D., Cilleros-Holgado, P., Piñero-Pérez, R., et al. (2022) · Genes · doi:10.3390/genes13122300 · Cited by 7 · see citing works
Molecular and clinical aspects of histone-related disorders
Ojaimi, M. A., Banimortada, B. J., Alragheb, A., Hajir, R. S., Alves, C., Walid, D., Raza, A., & El-Hattab, A. E. (2025) · Human Genomics · doi:10.1186/s40246-025-00734-9 · Cited by 3 · see citing works
Acetyltransferase in cardiovascular disease and aging
Keller, M. A., & Nakamura, M. (2024) · The Journal of Cardiovascular Aging · doi:10.20517/jca.2024.21 · Cited by 6 · see citing works
The clinical spectrum of a nonsense mutation in KAT6A : a case report
Wang, D., He, J., Li, X., Yan, S., Pan, L., Wang, T., Zhou, L., Liu, J., & Peng, X. (2022) · Journal of International Medical Research · doi:10.1177/03000605221140304 · Cited by 5 · see citing works
Wang, Q., Zhang, Y., Li, L., & Yang, N. (2024) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2420 · Cited by 5 · see citing works
First case of pan-suture craniosynostosis due to de novo mosaic KAT6A mutation
Korakavi, N., Bupp, C. P., Grysko, B., Juusola, J., Borta, C., & Madura, C. J. (2021) · Child s Nervous System · doi:10.1007/s00381-021-05111-0 · Cited by 5 · see citing works
Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome
Caprio, A. D., Rossi, C., Bertucci, E., Bedetti, L., Bertoncelli, N. M., Miselli, F., Corso, L., Bondi, C., Iughetti, L., Berardi, A., et al. (2023) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2023.104906 · Cited by 4 · see citing works
Donoghue, S. E., Wright, J. L., Voss, A. K., Lockhart, P. J., & Amor, D. J. (2024) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2024.108360 · Cited by 5 · see citing works
Colson, C., Tessarech, M., Brischoux‐Boucher, E., Boute‐Bénéjean, O., Vincent‐Delorme, C., Vanlerberghe, C., Boussion, S., Cunff, J. L., Duban‐Bedu, B., Faivre, L. O., et al. (2024) · Clinical Genetics · doi:10.1111/cge.14688 · Cited by 4 · see citing works
Ocular Findings in a Patient With KAT6A Mutation
Young, L., Brooks, B. P., & Traboulsi, E. I. (2021) · Journal of Pediatric Ophthalmology & Strabismus · doi:10.3928/01913913-20210205-02 · Cited by 4 · see citing works
Prenatal diagnosis of KAT6A syndrome in two fetuses with congenital heart disease
Agarwal, U., Lim, J., Pottinger, C., Suk, E. K., & Chaoui, R. (2022) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.26062 · Cited by 4 · see citing works
Phenotypic variability in a family with an inherited KAT6A frameshift variant
Ringsted, S. B., Markholt, S., Andreasen, L., & Gregersen, P. A. (2024) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2024.104993 · Cited by 3 · see citing works
Research Themes in KAT6A Syndrome: A Scoping Review
Tripathi, T., John, M. S., Wright, J. L., Esber, N., & Amor, D. J. (2025) · DNA · doi:10.3390/dna5020021 · Cited by 3 · see citing works
Lysine Acetyltransferase 6 Complexes in Neurodevelopmental Disorders and Different Types of Cancer
Mousavi, N., & Yang, X. (2025) · Results and problems in cell differentiation · doi:10.1007/978-3-031-91459-1_14 · Cited by 3 · see citing works
Guo, R., Duan, C., Zarrei, M., Reuter, M. S., Dong, R., Zhang, G., Yang, X., Zhang, H., Wang, Y., Scherer, S. W., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-06977-9 · Cited by 7 · see citing works
Lysine Acetyltransferase 6 in Health and Disease
Tan, Y., Wang, J., & Ma, F. (2025) · MedComm · doi:10.1002/mco2.70520 · Cited by 3 · see citing works
Guo, F., Liu, R., Pan, Y., Colasanto, M. P., Collins, C. D., & Hegde, M. (2024) · Human Mutation · doi:10.1155/2024/9115364 · Cited by 3 · see citing works
Liu, Q., Li, F., Wang, N., & Fan, Z. (2024) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-024-00539-w · Cited by 3 · see citing works
FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A
Kastens, G., Berger-Santangelo, H., Gerstner, S., Ufartes, R., Mischak, M., Borchers, A., & Pauli, S. (2025) · Human Genetics · doi:10.1007/s00439-025-02760-y · Cited by 4 · see citing works
Intellectual disability: A potentially treatable condition
Donoghue, S. E., & Amor, D. J. (2024) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.16598 · Cited by 4 · see citing works
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
Kaur, S., Bergen, N. J. V., Ben‐Zeev, B., Leonardi, E., Tan, T. Y., Coman, D. J., Kamien, B., White, S. M., John, M. S., Phelan, D., et al. (2020) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2020.09.003 · Cited by 3 · see citing works
Self-citationMiR-143-3p Inhibits Cell Proliferation in Pedatric Acute Myeloid Leukemia via Inhibition of KAT6A
Zhang, C., Zhang, M., Wu, J., Zhang, Y., & Sun, Y. (2021) · Pediatric Hematology and Oncology · doi:10.1080/08880018.2021.1988777 · Cited by 3 · see citing works
Acetyl-carnitine improves hyperactivity and learning deficits in KAT6A haploinsufficient mice
Eccles, S., Vanyai, H. K., Bergamasco, M., Malelang, S., Pehlivanoglu, H., Garnham, A. L., Ranathunga, N., Blewitt, M. E., Vogel, A. P., Smyth, G. K., et al. (2026) · Life Science Alliance · doi:10.26508/lsa.202503549 · Cited by 2 · see citing works
KAT6A acetylation regulates AMPK function and hypertrophic remodeling in the heart
Keller, M. A., Ivessa, A., Liu, T., Hong Li, A., Romanienko, P. J., & Nakamura, M. (2025) · Molecular Metabolism · doi:10.1016/j.molmet.2025.102239 · Cited by 2 · see citing works
Nava, A. A., Jops, C. T., Vuong, C. K., Niles-Jensen, S. L., Bondhus, L., Ong, C. J., de la Torre-Ubieta, L., Gandal, M. J., & Arboleda, V. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.06.17.545322 · Cited by 2 · see citing works
Self-citationKeller, M. A., Ivessa, A., Liu, T., Hong Li, A., Romanienko, P. J., & Nakamura, M. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.14.633047 · Cited by 2 · see citing works
Macnamara, E. F., Loydpierson, A. J., Latour, Y. L., D’Souza, P., Murphy, J. L., Wolfe, L. A., Estwick, T., Johnston, J. M., Yang, J. J., Acosta, M. T., et al. (2023) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2023.107707 · Cited by 1 · see citing works
Self-citationBondhus, L., Nava, A. A., Liu, I. S., & Arboleda, V. A. (2025) · Epigenetics & Chromatin · doi:10.1186/s13072-025-00571-z · Cited by 1 · see citing works
Self-citationEarly onset Arboleda-Tham syndrome due to KAT6A variants: Case report
Chen, H., Yu, D., Liu, S., Xie, H., Qiao, L., Liu, H., & Li, W. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1704725 · Cited by 1 · see citing works
Massaroni, V., Donne, V. D., Arcangeli, V., Moriconi, F., & Chieffo, D. P. R. (2026) · Journal of Neurolinguistics · doi:10.1016/j.jneuroling.2026.101314 · Cited by 1 · see citing works
Clinical immunology in chromatinopathies: a scoping review
Jans, D., Al, B., Bouman, A., Geelen, J. M., Kleefstra, T., & Placek, K. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1773284 · Cited by 1 · see citing works
KAT6A is essential for developmental control gene expression in neural stem and progenitor cells
Voss, A. K., Eccles, S., Wichmann, J., Abeysekera, W., Bergamasco, M., Garnham, A. L., Ranathunga, N., Yang, Y., Bowden, R. J., Smyth, G. K., et al. (2026) · PLoS Genetics · doi:10.1371/journal.pgen.1012133 · Cited by 1 · see citing works
Novel de novo mutation in KAT6A gene in a child with severe aplastic anemia
Chao, Y., & Chang, J. (2023) · Pediatric Blood & Cancer · doi:10.1002/pbc.30417 · Cited by 1 · see citing works
Ng, R., Kalinousky, A. J., & Harris, J. R. (2024) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-024-06500-5 · Cited by 1 · see citing works
Guo, R., Duan, C., Zarrei, M., Reuter, M. S., Dong, R., Zhang, G., Yang, X., Zhang, H., Wang, Y., Scherer, S. W., et al. (2024) · Research Square · doi:10.21203/rs.3.rs-3969530/v1 · Cited by 1 · see citing works
Zhao, Y., Wang, Y., Shi, L., McDonald‐McGinn, D. M., Crowley, T. B., McGinn, D. E., Tran, O., Miller, D., Zackai, E. H., Johnston, H. R., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.09.30.507111
Luteolin promotes KAT6A gene expression
Brun, P., Dettin, M., & Vettor, R. (2023) · Journal of Rare Diseases · doi:10.1007/s44162-023-00008-9
Souza, E. M. S. M. M. (2020) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2020.tde-09112020-112756
Razavi, A., & Yang, X. (2025) · IntechOpen eBooks · doi:10.5772/intechopen.1009241
Liu, Q., Li, F., Wang, N., & Fan, Z. (2024) · Figshare · doi:10.6084/m9.figshare.26082650
- Authors
- Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E., Hakonarson, H., Falk, M. J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V. A., & Newbury-Ecob, R.
- Affiliations
- University Hospitals Bristol NHS Foundation Trust (GB)
- Ninewells Hospital (GB)
- Churchill Hospital (GB)
- Manchester Academic Health Science Centre (GB)
- Queen Elizabeth University Hospital (GB)
- Liverpool Women's Hospital (GB)
- University College Dublin (IE)
- Addenbrooke's Hospital (GB)
- Great Ormond Street Hospital (GB)
- Hunter Genetics (AU)
- The University of Melbourne (AU)
- Victorian Clinical Genetics Services (AU)
- Osaka Women's and Children's Hospital (JP)
- Yokohama City University (JP)
- National Institutes of Health (US)
- Children's Hospital of Philadelphia (US)
- Mayo Clinic (US)
- Stanford University (US)
- Leiden University Medical Center (NL)
- Centre Hospitalier Universitaire de Nantes (FR)
- Guy's Hospital (GB)
- Queensland Health (AU)
- Children's Health Queensland Hospital and Health Service (AU)
- Amsterdam UMC Location University of Amsterdam (NL)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Radboud University Medical Center (NL)
- Oslo University Hospital (NO)
- Leiden University (NL)
- University of Groningen (NL)
- University of California, Los Angeles (US)
- University Medical Center Hamburg-Eppendorf (DE)
- Corresponding author
- Arboleda, Valerie A.
- ORCID
- Kennedy, Joanna
- Joss, Shelagh
- McKay, Victoria
- Green, Andrew
- Armstrong, Ruth
- Lees, Melissa
- Kamien, Benjamin
- Tan, Tiong Yang
- Yap, Patrick
- Stark, Zornitza
- Okamoto, Nobuhiko
- Miyake, Noriko
- Matsumoto, Naomichi
- Macnamara, Ellen
- Murphy, Jennifer L.
- McCormick, Elizabeth
- Hakonarson, Hakon
- Falk, Marni J.
- Blackburn, Patrick
- Klee, Eric
- Schelley, Susan
- Hudgins, Louanne
- Kant, Sarina
- Isidor, Bertrand
- Williams, Mark
- Patel, Chirag
- Heussler, Helen
- Lakeman, Phillis
- Kini, Usha
- Elting, Mariet
- Reijnders, Margot
- Schuurs-Hoeijmakers, Janneke
- Wafik, Mohamed
- Ruivenkamp, Claudia A.L.
- Nibbeling, Esther
- Dingemans, Alexander J.M.
- Douine, Emilie D.
- Nelson, Stanley F.
- Hempel, Maja
- Bierhals, Tatjana
- Lessel, Davor
- Johannsen, Jessika
- Arboleda, Valerie A.
- Newbury-Ecob, Ruth
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2019-04
- Volume
- 21
- Issue
- 4
- Pages
- 850-860
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC6634310
- OpenAlex
- W2890142544
- Cited by
- 107
- References
- 35
- Citations by year
- 2026: 9 · 2025: 13 · 2024: 18 · 2023: 17 · 2022: 17 · 2021: 16 · 2020: 16 · 2019: 1
- FWCI
- 5.06
- Type
- journal article
- Language
- en
- Update notices
- erratum (2020-11-01)
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- PubMed Central (acceptedVersion)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion)
- Lenus, The Irish Health Repository (Dr Steevens Hospital Library) (submittedVersion)
- Funders
- Wellcome Trust (HICF-1009-003, GEN/284/12, WT 098051, 10/H0305/83)
- National Institute for Health and Care Research (10/H0305/83, HICF-1009-003, WT098051)
- National Institutes of Health (DP5OD024579)
- Japan Society for the Promotion of Science (17H01539, 16H05357)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD086984)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- genotype-phenotype correlation, intellectual disability, speech delay, microcephaly, cardiac anomalies, gastrointestinal obstruction, splice site mutation, missense mutations, de novo mutations, penetrance, phenotypic variability
- MeSH terms
- Adolescent, Adult, Child, Developmental Disabilities, Child, Preschool, Chromosome Deletion, Female, Genotype, Humans, Infant, Male, Intellectual Disability, Microcephaly, Mutation, Phenotype, Protein Isoforms, Histone Acetyltransferases, Young Adult, Genetic Association Studies, Exome
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