Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
Open accessAbstract
Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of brittle cornea syndrome (BCS), an autosomal-recessive generalized connective tissue disorder. Enucleation is frequently the only management option for this condition, resulting in blindness and psychosocial distress. Even when the cornea remains grossly intact, visual function could also be impaired by a high degree of myopia and keratoconus. Deafness is another common feature and results in combined sensory deprivation. Using autozygosity mapping, we identified mutations in PRDM5 in families with BCS. We demonstrate that regulation of expression of extracellular matrix components, particularly fibrillar collagens, by PRDM5 is a key molecular mechanism that underlies corneal fragility in BCS and controls normal corneal development and maintenance. ZNF469, encoding a zinc finger protein of hitherto undefined function, has been identified as a quantitative trait locus for central corneal thickness, and mutations in this gene have been demonstrated in Tunisian Jewish and Palestinian kindreds with BCS. We show that ZNF469 and PRDM5, two genes that when mutated cause BCS, participate in the same regulatory pathway.
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Because not all BCS patients harbored ZNF469 mutations, a second locus for BCS was suspected, and this was confirmed by the discovery of mutations in PRDM5.
“Because not all BCS patients harbored ZNF469 mutations, a second locus for BCS was suspected.This was confirmed by the discovery of mutations in PRDM5 (MIM 614161) [Burkitt Wright et al., 2011].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Burkitt Wright et al., 2011
Keratoconus has also been diagnosed in a young adult heterozygous for a PRDM5 mutation.
“Keratoconus has also been diagnosed in a young adult, heterozygous for a PRDM5 mutation [Burkitt Wright et al., 2011].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Burkitt Wright et al., 2011
To provide a comprehensive overview of the clinical phenotype of BCS, the authors reviewed data on 51 patients (ZNF469: n=32; PRDM5: n=19).
“To provide a comprehensive overview of the clinical phenotype of BCS, we reviewed the data on 51 patients (ZNF469: n¼ 32; PRDM5: n ¼ 19) (Table S1) [Al-Hussain et al., 2004;Abu et al., 2008;Christensen et al., 2010;Khan et al., 2010;Burkitt Wright et al., 2011;Al-Owain et al., 2012;Aldahmesh et al., 2012;Rohrbach et al., 2013;Ramappa et al., 2014;Avgitidou et al., 2015b;Porter et al., 2015].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Burkitt Wright et al., 2011
Cites
DAVID: Database for Annotation, Visualization, and Integrated Discovery
Dennis, G., Sherman, B. T., Hosack, D. A., Yang, J., Gao, W., Lane, H. C., & Lempicki, R. A. (2003) · Genome Biology · doi:10.1186/gb-2003-4-5-p3 · Cited by 9,327 · see citing works
Bolstad, B. M., Irizarry, R. A., Åstrand, M., & Speed, T. P. (2003) · Bioinformatics · doi:10.1093/bioinformatics/19.2.185 · Cited by 8,185 · 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
Connective Tissue and Its Heritable Disorders
Heinegård, D., Aspberg, A., Franzén, A., & Lorenzo, P. (2002) · Wiley eBooks · doi:10.1002/0471221929 · Cited by 946 · see citing works
Steinmann, B., Royce, P. M., & Superti‐Furga, A. (2002) · Connective Tissue and Its Heritable Disorders · doi:10.1002/0471221929.ch9 · Cited by 358 · see citing works
Ahmad, N. N., Ala‐Kokko, L., Knowlton, R. G., Jiménez, S. A., Weaver, E. J., Maguire, J. I., Tasman, W. S., & Prockop, D. J. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.15.6624 · Cited by 315 · see citing works
Richards, A. J. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.9.1339 · Cited by 306 · see citing works
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencingPreprint
Teer, J. K., Bonnycastle, L. L., Chines, P. S., Hansen, N. F., Aoyama, N., Swift, A. J., Abaan, H. Ö., Albert, T. J., Program, N. C. S., Margulies, E. H., et al. (2010) · Genome Research · doi:10.1101/gr.106716.110 · Cited by 206 · see citing works
Self-citationCollagen-related genes influence the glaucoma risk factor, central corneal thickness
Vithana, E. N., Aung, T., Khor, C. C., Cornes, B. K., Tay, W.-T., Sim, X., Lavanya, R., Wu, R., Zheng, Y., Hibberd, M. L., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddq511 · Cited by 153 · see citing works
Lu, Y., Dimasi, D. P., Hysi, P. G., Hewitt, A. W., Burdon, K. P., Toh, T., Ruddle, J. B., Li, Y., Mitchell, P., Healey, P. R., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000947 · Cited by 151 · see citing works
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8
Vitart, V., Benčić, G., Hayward, C., Škunca Herman, J., Huffman, J., Campbell, S., Bućan, K., Navarro, P., Gunjaca, G., Marin, J., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq349 · Cited by 145 · see citing works
Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome
Abu, A., Frydman, M., Marek, D., Pras, E., Nir, U., Reznik-Wolf, H., & Pras, E. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.04.001 · Cited by 139 · see citing works
Instrumenting the health care enterprise for discovery research in the genomic eraPreprint
Murphy, S. N., Churchill, S. E., Bry, L., Chueh, H. C., Weiss, S. T., Lazarus, R. M., Zeng, Q. T., Dubey, A. K., Gainer, V. S., Mendis, M., et al. (2009) · Genome Research · doi:10.1101/gr.094615.109 · Cited by 126 · see citing works
Structural Abnormalities of the Cornea and Lid Resulting from Collagen V Mutations
Segev, F., Héon, E., Cole, W. G., WENSTRUP, R. J., Young, F., Slomovic, A. R., Rootman, D. S., Whitaker‐Menezes, D., Chervoneva, I., & Birk, D. E. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0771 · Cited by 125 · see citing works
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.
Steinmann, B., Eyre, D. R., & Shao, P. (1995) · PubMed · Cited by 113 · see citing works
Mutations in HPSE2 Cause Urofacial Syndrome
Daly, S. B., Urquhart, J. E., Hilton, E. N., McKenzie, E. A., Kammerer, R. A., Lewis, M. A., Kerr, B. A., Stuart, H. M., Donnai, D., Long, D. A., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.05.006 · Cited by 107 · see citing works
Self-citationZoppi, N., Gardella, R., De Paepe, A., Barlati, S., & Colombi, M. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m312609200 · Cited by 107 · see citing works
Self-citationCorneal Abnormalities in Ehlers-Danlos Syndrome Type VI
Cameron, J. A. (1993) · Cornea · doi:10.1097/00003226-199301000-00009 · Cited by 97 · see citing works
Al‐Hussain, H., Zeisberger, S. M., Huber, P., Giunta, C., & Steinmann, B. U. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20326 · Cited by 81 · see citing works
Self-citationNevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)
Giunta, C., Randolph, A. E., Al‐Gazali, L. I., Brunner, H. G., KRAENZLIN, M. E., & Steinmann, B. U. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30529 · Cited by 70 · see citing works
Self-citationComparison of Corneal Thickness Measurements Using Galilei, HR Pentacam, and Ultrasound
Hosseini, H., Katbab, A., Khalili, M. R., & Abtahi, M. B. (2010) · Cornea · doi:10.1097/ico.0b013e3181cf98e5 · Cited by 57 · see citing works
Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene
Christensen, A. E., Knappskog, P. M., Midtbø, M., Gjesdal, C. G., Mengel‐From, J., Morling, N., Rødahl, E., & Boman, H. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4251 · Cited by 55 · see citing works
The Tumor Suppressor PRDM5 Regulates Wnt Signaling at Early Stages of Zebrafish Development
Meani, N., Pezzimenti, F., Deflorian, G., Mione, M., & Alcalay, M. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004273 · Cited by 47 · see citing works
KRAENZLIN, M. E., Kraenzlin, C. A., Meier, C., Giunta, C., & Steinmann, B. U. (2008) · Clinical Chemistry · doi:10.1373/clinchem.2008.105262 · Cited by 37 · see citing works
Self-citationFAK-independent αvβ3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts
Zoppi, N., Barlati, S., & Colombi, M. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.03.003 · Cited by 31 · see citing works
Self-citationKhan, A. O. (2010) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2010.238 · Cited by 30 · see citing works
Bilateral Spontaneous Corneal Rupture in Brittle Cornea Syndrome
Izquierdo, L., Mannis, M. J., Marsh, P. B., Yang, S. P., & McCarthy, J. M. (1999) · Cornea · doi:10.1097/00003226-199909000-00019 · Cited by 27 · see citing works
Flagged first, then by citations
1 of the 28 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
The Ehlers–Danlos syndrome, a disorder with many faces
De Paepe, A., & Malfait, F. (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01858.x · Cited by 379 · see citing works
The pathogenesis of keratoconus
Davidson, A. E., Hayes, S., Hardcastle, A. J., & Tuft, S. J. (2013) · Eye · doi:10.1038/eye.2013.278 · Cited by 364 · see citing works
Malfait, F., Castori, M., Francomano, C. A., Giunta, C., Kosho, T., & Byers, P. H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0194-9 · Cited by 328 · see citing works
Self-citationLu, Y., Vitart, V., Burdon, K. P., Khor, C. C., Bykhovskaya, Y., Mirshahi, A., Hewitt, A. W., Koehn, D., Hysi, P. G., Ramdas, W. D., et al. (2013) · Nature Genetics · doi:10.1038/ng.2506 · Cited by 310 · see citing works
Multicellular Transcriptional Analysis of Mammalian Heart Regeneration
Quaife-Ryan, G., Sim, C., Ziemann, M., Kaspi, A., Rafehi, H., Ramialison, M., El-Osta, A., Hudson, J., & Porrello, E. (2017) · Circulation · doi:10.1161/circulationaha.117.028252 · Cited by 245 · see citing works
The prdm family: expanding roles in stem cells and development
Hohenauer, T., & Moore, A. W. (2012) · Development · doi:10.1242/dev.070110 · Cited by 265 · see citing works
The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 249 · see citing works
Self-citationPRDM proteins: important players in differentiation and disease
Fog, C. K., Galli, G. G., & Lund, A. H. (2012) · BioEssays · doi:10.1002/bies.201100107 · Cited by 201 · see citing works
Gensemer, C., Burks, R., Kautz, S. A., Judge, D. P., Lavallee, M. E., & Norris, R. A. (2020) · Developmental Dynamics · doi:10.1002/dvdy.220 · Cited by 151 · see citing works
Colombi, M., Dordoni, C., Chiarelli, N., & Ritelli, M. (2015) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31429 · Cited by 127 · see citing works
Self-citationThe Multifaceted Roles of PRDM16: Adipose Biology and Beyond
Chi, J., & Cohen, P. (2015) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2015.11.005 · Cited by 125 · see citing works
Malfait, F., & Paepe, A. D. (2013) · Advances in experimental medicine and biology · doi:10.1007/978-94-007-7893-1_9 · Cited by 121 · see citing works
Loukovitis, E., Sfakianakis, K., Syrmakesi, P., Tsotridou, E., Orfanidou, M., Bakaloudi, D. R., Stoila, M., Kozei, A., Koronis, S., Zachariadis, Z., et al. (2018) · Ophthalmology and Therapy · doi:10.1007/s40123-018-0144-8 · Cited by 107 · see citing works
Iglesias, A. I., Mishra, A., Vitart, V., Bykhovskaya, Y., Höhn, R., Springelkamp, H., Cuéllar-Partida, G., Gharahkhani, P., Bailey, J. N. C., Willoughby, C. E., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03646-6 · Cited by 95 · see citing works
Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review
D’hondt, S., Damme, T. V., & Malfait, F. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.138 · Cited by 91 · see citing works
Rohrbach, M., Spencer, H. L., Porter, L. F., Burkitt-Wright, E. M. M., Bürer, C., Janecke, A., Bakshi, M., Sillence, D., Al-Hussain, H., Baumgartner, M., et al. (2013) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2013.04.014 · Cited by 83 · see citing works
Self-citationChiarelli, N., Carini, G., Zoppi, N., Dordoni, C., Ritelli, M., Venturini, M., Castori, M., & Colombi, M. (2016) · PLOS ONE · doi:10.1371/journal.pone.0161347 · Cited by 78 · see citing works
Self-citationEnrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus
Lechner, J., Porter, L. F., Rice, A., Vitart, V., Armstrong, D. J., Schorderet, D. F., Munier, F. L., Wright, A. F., Inglehearn, C. F., Black, G. C., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu253 · Cited by 72 · see citing works
Self-citationMutations in the Zinc Finger Protein Gene, ZNF469 , Contribute to the Pathogenesis of Keratoconus
Vincent, A. L., Jordan, C. A., Cadzow, M. J., Merriman, T. R., & McGhee, C. N. J. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14532 · Cited by 70 · see citing works
Insight into the molecular genetics of myopia.
Li, J., & Zhang, Q. (2017) · PubMed Central · Cited by 66 · see citing works
Brittle cornea syndrome: recognition, molecular diagnosis and management
Burkitt‐Wright, E., Porter, L. F., Spencer, H. L., Clayton‐Smith, J., Au, L., Munier, F. L., Smithson, S., Suri, M., Rohrbach, M., Manson, F. D. C., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-68 · Cited by 66 · see citing works
Self-citationPrdm5 Regulates Collagen Gene Transcription by Association with RNA Polymerase II in Developing Bone
Galli, G. G., Honnens de Lichtenberg, K., Carrara, M., Hans, W., Wuelling, M., Mentz, B., Multhaupt, H. A., Fog, C. K., Jensen, K. T., Rappsilber, J., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002711 · Cited by 61 · see citing works
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus
Khaled, M. L., Bykhovskaya, Y., Gu, C., Liu, A. S., Drewry, M. D., Chen, Z., Mysona, B. A., Parker, E. J., McNabb, R. P., Yu, H., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-55866-5 · Cited by 56 · see citing works
Igo, R. P., Kopplin, L. J., Joseph, P. L., Truitt, B. J., Fondran, J. R., Bardenstein, D. S., Aldave, A. J., Croasdale, C. R., Price, M. O., Rosenwasser, M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046742 · Cited by 48 · see citing works
Davidson, A. E., Borasio, E., Lišková, P., Khan, A. O., Hassan, H., Cheetham, M. E., Plagnol, V., Alkuraya, F. S., Tuft, S. J., & Hardcastle, A. J. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-15792 · Cited by 47 · see citing works
Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies
Marelli, S., Micaglio, E., Taurino, J., Salvi, P., Rurali, E., Perrucci, G. L., Dolci, C., Udugampolage, N. S., Caruso, R., Gentilini, D., et al. (2023) · Diagnostics · doi:10.3390/diagnostics13132284 · Cited by 46 · see citing works
Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012
Mayer, K., Kennerknecht, I., & Steinmann, B. U. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.162 · Cited by 43 · see citing works
Ocular genetic disease in the Middle East
Khan, A. O. (2013) · Current Opinion in Ophthalmology · doi:10.1097/icu.0b013e3283638374 · Cited by 38 · see citing works
Zoppi, N., Chiarelli, N., Ritelli, M., & Colombi, M. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19040982 · Cited by 37 · see citing works
Self-citationBrittle cornea syndrome: current perspectives
Walkden, A., Burkitt‐Wright, E., & Au, L. (2019) · Clinical ophthalmology · doi:10.2147/opth.s185287 · Cited by 37 · see citing works
Self-citationRitelli, M., Chiarelli, N., Zoppi, N., Dordoni, C., Quinzani, S., Traversa, M., Venturini, M., Calzavara-Pinton, P., & Colombi, M. (2015) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2014.11.005 · Cited by 37 · see citing works
Self-citationMicheal, S., Siddiqui, S. N., Zafar, S. N., Venselaar, H., Qamar, R., Khan, M. I., & den Hollander, A. I. (2015) · Neurogenetics · doi:10.1007/s10048-015-0462-0 · Cited by 33 · see citing works
Rochat, E., Selmoni, O. M., & Joost, S. (2021) · Diversity and Distributions · doi:10.1111/ddi.13256 · Cited by 33 · see citing works
Dhooge, T., Damme, T. V., Syx, D., Mosquera, L. M., Nampoothiri, S., Radhakrishnan, A., Şimşek‐Kiper, P. Ö., Ütine, G. E., Bonduelle, M., Migeotte, I., et al. (2021) · Human Mutation · doi:10.1002/humu.24199 · Cited by 31 · see citing works
Galli, G. G., Carrara, M., Francavilla, C., de Lichtenberg, K. H., Olsen, J. V., Calogero, R., & Lund, A. H. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.00545-13 · Cited by 31 · see citing works
Swierkowska, J., & Gajęcka, M. (2017) · Ophthalmic Genetics · doi:10.1080/13816810.2017.1313993 · Cited by 31 · see citing works
Ong, A. P. C., Zhang, J., Vincent, A. L., & McGhee, C. N. J. (2021) · Clinical and Experimental Ophthalmology · doi:10.1111/ceo.13958 · Cited by 30 · see citing works
Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome
Porter, L. F., Gallego‐Pinazo, R., Keeling, C. L., Kamieniorz, M., Zoppi, N., Colombi, M., Giunta, C., Bonshek, R. E., Manson, F. D. C., & Black, G. C. M. (2015) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-015-0360-4 · Cited by 28 · see citing works
Self-citationIdentification of a novel ZNF469 mutation in a large family with Ehlers–Danlos phenotype
Al‐Owain, M. A., Al-Dosari, M. S., Sunker, A., Shuaib, T., & Alkuraya, F. S. (2012) · Gene · doi:10.1016/j.gene.2012.09.022 · Cited by 28 · see citing works
Prdm5 suppresses ApcMin-driven intestinal adenomas and regulates monoacylglycerol lipase expression
Galli, G. G., Multhaupt, H. A. B., Carrara, M., de Lichtenberg, K. H., Christensen, I. B. J., Linnemann, D., Santoni‐Rugiu, E., Calogero, R., & Lund, A. H. (2013) · Oncogene · doi:10.1038/onc.2013.283 · Cited by 27 · see citing works
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome
Ramappa, M., Wilson, M. E., Rogers, R. C., & Trivedi, R. H. (2014) · Journal of American Association for Pediatric Ophthalmology and Strabismus · doi:10.1016/j.jaapos.2014.06.013 · Cited by 26 · see citing works
Self-citationA role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome
Porter, L. F., Galli, G. G., Williamson, S. J. M., Selley, J. N., Knight, D., Elcioglu, N. H., Aydın, A., Elçioğlu, M. N., Venselaar, H., Lund, A. H., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv345 · Cited by 25 · see citing works
Self-citationIdentification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome
Micheal, S., Khan, M. I., Islam, F., Akhtar, F., Qamar, R., Tassignon, M., Loeys, B., & den Hollander, A. I. (2016) · Cornea · doi:10.1097/ico.0000000000000824 · Cited by 25 · see citing works
Chrystal, P. W., & Walter, M. A. (2019) · Experimental Eye Research · doi:10.1016/j.exer.2019.107815 · Cited by 24 · see citing works
A novel mutation in PRDM5 in brittle cornea syndrome
Aldahmesh, M. A., Mohamed, J., & Alkuraya, F. S. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01808.x · Cited by 24 · see citing works
Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population.
Yu, X., Chen, B., Zhang, X., & Shentu, X. (2017) · PubMed Central · Cited by 24 · see citing works
Further evaluation of differential expression of keratoconus candidate genes in human corneas
Karolak, J. A., Ginter-Matuszewska, B., Tomela, K., Kabza, M., Nowak-Malczewska, D. M., Rydzanicz, M., Polakowski, P., Szaflik, J. P., & Gajęcka, M. (2020) · PeerJ · doi:10.7717/peerj.9793 · Cited by 23 · see citing works
A mouse model of brittle cornea syndrome caused by mutation in Zfp469
Stanton, C. M., Findlay, A. S., Drake, C., Mustafa, M. Z., Gautier, P. E., McKie, L., Jackson, I. J., & Vitart, V. (2021) · Disease Models & Mechanisms · doi:10.1242/dmm.049175 · Cited by 22 · see citing works
Brooks, J. K. (2018) · Oral Surgery Oral Medicine Oral Pathology and Oral Radiology · doi:10.1016/j.oooo.2018.05.012 · Cited by 22 · see citing works
Brittle cornea syndrome: a case report and review of the literature
Wan, Q., Tang, J., Han, Y. K., Xiao, Q., & Deng, Y. (2018) · BMC Ophthalmology · doi:10.1186/s12886-018-0903-2 · Cited by 22 · see citing works
Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus
Yildiz, E. H., Bardak, H., Günay, M., Bardak, Y., İmamoğlu, S., Ozbas, H., & Bağcı, Ö. (2017) · Current Eye Research · doi:10.1080/02713683.2017.1325910 · Cited by 21 · see citing works
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Lin, A. T., Hammond-Kaarremaa, L., Liu, H., Stantis, C., McKechnie, I., Pavel, M., Pavel, S., Wyss, S. S., Sparrow, D., Carr, K. E., et al. (2023) · Science · doi:10.1126/science.adi6549 · Cited by 20 · see citing works
Avgitidou, G., Siebelmann, S., Bachmann, B. O., Kohlhase, J., Heindl, L. M., & Cursiefen, C. (2015) · Case Reports in Ophthalmological Medicine · doi:10.1155/2015/637084 · Cited by 20 · see citing works
Methylation and expression of the tumour suppressor, PRDM5, in colorectal cancer and polyp subgroups
Bond, C., Bettington, M. L., Pearson, S., McKeone, D., Leggett, B., & Whitehall, V. (2015) · BMC Cancer · doi:10.1186/s12885-015-1011-9 · Cited by 20 · see citing works
Khan, A. O., Aldahmesh, M. A., & Alkuraya, F. S. (2012) · Ophthalmic Genetics · doi:10.3109/13816810.2012.670362 · Cited by 20 · see citing works
Lacustrine speciation associated with chromosomal inversion in a lineage of riverine fishes
MacGuigan, D. J., Krabbenhoft, T. J., Harrington, R. C., Wainwright, D. K., Backenstose, N. J. C., & Near, T. J. (2023) · Evolution · doi:10.1093/evolut/qpad067 · Cited by 19 · see citing works
Zhang, W., Margines, J. B., Jacobs, D. S., Rabinowitz, Y. S., Hanser, E. M., Chauhan, T., Chung, D. D., Bykhovskaya, Y., Gaster, R. N., & Aldave, A. J. (2019) · Cornea · doi:10.1097/ico.0000000000002002 · Cited by 18 · see citing works
Salamito, M., Gillet, B., Syx, D., Vaganay, E., Malbouyres, M., Cerutti, C., Tissot, N., Exbrayat-Heritier, C., Perez, P., Jones, C., et al. (2022) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2022.07.034 · Cited by 17 · see citing works
Bao, J., Yu, X., Ping, X., Shentu, X., & Zou, J. (2023) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.64.5.29 · Cited by 17 · see citing works
Rolvien, T., Kornak, U., Linke, S. J., Amling, M., & Oheim, R. (2020) · Calcified Tissue International · doi:10.1007/s00223-020-00721-3 · Cited by 16 · see citing works
Moshirfar, M., Barke, M. R., Huynh, R., Waite, A. J., Ply, B. K., Ronquillo, Y. C., & Hoopes, P. C. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10173769 · Cited by 16 · see citing works
Methylation in cornea and corneal diseases: a systematic review
Xia, Y., Chen, K., Yang, Q., Chen, Z., Jin, L., Zhang, L., Yu, X., Wang, L., Xie, C., Zhao, Y. Z., et al. (2024) · Cell Death Discovery · doi:10.1038/s41420-024-01935-2 · Cited by 15 · see citing works
Genetic Evidence for Differential Regulation of Corneal Epithelial and Stromal Thickness
Koehn, D., Meyer, K. J., & Anderson, M. G. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.15-17179 · Cited by 15 · see citing works
Gillespie, R. L., Lloyd, I. C., & Black, G. C. M. (2014) · Human Heredity · doi:10.1159/000362599 · Cited by 13 · see citing works
Self-citationIdentification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome
Micheal, S., Siddiqui, S. N., Zafar, S. N., Niewold, I. T. G., Khan, M. I., & Bergen, A. A. B. (2019) · Cornea · doi:10.1097/ico.0000000000001828 · Cited by 13 · see citing works
Gupta, Y., Shanmugam, C., Priyadarshini, K., Mandal, S., Tandon, R., & Sharma, N. (2024) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2024.10.003 · Cited by 12 · see citing works
The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism
Damme, T. V., Colman, M., Syx, D., & Malfait, F. (2022) · Genes · doi:10.3390/genes13020265 · Cited by 13 · see citing works
ZNF469 is a profibrotic regulator of extracellular matrix in hepatic stellate cells
Ariyachet, C., Nokkeaw, A., Boonkaew, B., & Tangkijvanich, P. (2024) · Journal of Cellular Biochemistry · doi:10.1002/jcb.30578 · Cited by 11 · see citing works
Bouhouche, A., Albaroudi, N., Alaoui, M. A. E., Askander, O., Habbadi, Z., Hassani, A. E., Iraqi, H., Fahime, E. E., & Belmekki, M. (2021) · Experimental Eye Research · doi:10.1016/j.exer.2021.108671 · Cited by 11 · see citing works
Genetics of Keratoconus: A Comprehensive Review
Barcelo-Canton, R. H., Ting, D. S. J., & Mehta, J. S. (2025) · Genes · doi:10.3390/genes16101147 · Cited by 10 · see citing works
The transcription factor ZNF469 regulates collagen production in liver fibrosis
Steinhauser, S., Estoppey, D., Buehler, D. P., Xiong, Y., Pizzato, N., Rietsch, A., Wu, F., Leroy, N., Wunderlin, T., Claerr, I., et al. (2025) · JCI Insight · doi:10.1172/jci.insight.182232 · Cited by 10 · see citing works
Hereditary Hearing Impairment with Cutaneous Abnormalities
Lee, T.-L., Lin, P., Chen, P., Hong, J., & Wu, C. (2020) · Genes · doi:10.3390/genes12010043 · Cited by 9 · see citing works
Zhang, Q. (2021) · Springer eBooks · doi:10.1007/978-3-030-74334-5_4 · Cited by 10 · see citing works
Wang, L., Ding, Q.-Q., Gao, S., Yang, H., Wang, M., Shi, Y., Cheng, B., Bi, J., & Feng, Z. (2016) · Cancer Medicine · doi:10.1002/cam4.846 · Cited by 9 · see citing works
Skalická, P., Porter, L. F., Brejchová, K., Malinka, F., Ďuďáková, Ľ., & Lišková, P. (2019) · Biomedical Papers · doi:10.5507/bp.2019.017 · Cited by 9 · see citing works
Keratoconus in Costello Syndrome
Gripp, K. W., & Demmer, L. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35816 · Cited by 8 · see citing works
Moore, P., Wolf, A., & Sathyamoorthy, M. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25115848 · Cited by 7 · see citing works
Does brittle cornea syndrome have a bone fragility phenotype?
Cundy, T., Vincent, A. L., & Robertson, S. P. (2021) · Bone Reports · doi:10.1016/j.bonr.2021.101124 · Cited by 7 · see citing works
Brittle-Cornea-Syndrom Typ 1 durch Compound-Heterozygotie zweier Mutationen im ZNF469-Gen
Menzel-Severing, J., Meiller, R., Kraus, C. S., Trollmann, R., & Atalay, D. A. (2018) · Der Ophthalmologe · doi:10.1007/s00347-018-0796-8 · Cited by 7 · see citing works
ZNF469 promotes extracellular matrix production in normal and keloid dermal fibroblasts
Charoenthanakitkul, D., Boonto, T., Nokkeaw, A., & Ariyachet, C. (2025) · Molecular Medicine Reports · doi:10.3892/mmr.2025.13668 · Cited by 6 · see citing works
Anterior segment dysgenesis: part II—genetics and pathogenesis
Bolton, E., & Bohnsack, B. L. (2024) · Expert Review of Ophthalmology · doi:10.1080/17469899.2024.2326135 · Cited by 6 · see citing works
Madhuri, V., Selina, A., John, D., & Loganathan, L. (2020) · Indian Journal of Ophthalmology · doi:10.4103/ijo.ijo_325_20 · Cited by 6 · see citing works
The BS variant of C4 protects against age-related loss of white matter microstructural integrity
Traylor, M., Malik, R., Gesierich, B. G., & Dichgans, M. (2021) · Brain · doi:10.1093/brain/awab261 · Cited by 6 · see citing works
Variants in the ZNF469 gene in families with Brittle cornea syndrome and keratoconus
Lin, Q., Wang, X., Han, T., Peng, X., & Zhou, X. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e27052 · Cited by 6 · see citing works
Identification of Prdm genes in human corneal endothelium
Rolev, K., O’Donovan, D. G., Georgiou, C., Rajan, M. S., & Chittka, A. (2017) · Experimental Eye Research · doi:10.1016/j.exer.2017.02.009 · Cited by 6 · see citing works
A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings
Sun, D., Dai, Y., Pan, X., Shan, T., Wang, D.-Q., & Chen, P. (2017) · International Journal of Ophthalmology · doi:10.18240/ijo.2017.06.04 · Cited by 6 · see citing works
Sklar, B. A., Pisuchpen, P., Bareket, M., Milman, T., Eagle, R. C., Minor, J. M., Procopio, R. A., Capasso, J. E., Levin, A. V., & Hammersmith, K. M. (2023) · Cornea · doi:10.1097/ico.0000000000003372 · Cited by 5 · see citing works
Pyatla, G., Bera, S., Mishra, A., Mandal, A. K., & Chakrabarti, S. (2024) · Seminars in Ophthalmology · doi:10.1080/08820538.2024.2435944 · Cited by 5 · see citing works
Collagens in the Physiopathology of the Ehlers–Danlos Syndromes
Malfait, F., Vroman, R., Colman, M., & Syx, D. (2021) · Biology of extracellular matrix · doi:10.1007/978-3-030-67592-9_3 · Cited by 4 · see citing works
Overexpression of PRDM13 inhibits glioma cells via Rho and GTP enzyme activation protein
Zhang, L., Cao, H., He, T., Yang, J., Hong, T., Wang, Y., & Hu, Q. (2018) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2018.3679 · Cited by 5 · see citing works
Genetics of the Ehlers–Danlos syndrome: More than collagen disorders
Van Damme, T., Syx, D., Coucke, P., Symoens, S., De Paepe, A., & Malfait, F. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1022528 · Cited by 4 · see citing works
Advances in keratoconus animal models: From genetics to biomechanics
Zou, Z., Li, S., & Zhang, H. (2025) · Experimental Eye Research · doi:10.1016/j.exer.2025.110330 · Cited by 4 · see citing works
Veerappa, A. M. (2021) · Ophthalmic Genetics · doi:10.1080/13816810.2020.1868013 · Cited by 4 · see citing works
Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature
Incandela, C., D’Oria, F., Lapenna, L., & Acquaviva, A. (2023) · European Journal of Ophthalmology · doi:10.1177/11206721231171426 · Cited by 4 · see citing works
Use of an onlay corneal lamellar graft for brittle cornea syndrome
Muthusamy, K., & Tuft, S. J. (2018) · BMJ Case Reports · doi:10.1136/bcr-2017-223824 · Cited by 4 · see citing works
Corneal ectasia associated with posterior lamellar opacification
Yung, M., Chen, A. C., Chung, D. D., Barrington, A., Zhang, J., Frausto, R. F., Magalhães, O. D. A., & Aldave, A. J. (2021) · Ophthalmic Genetics · doi:10.1080/13816810.2021.1923034 · Cited by 3 · see citing works
Arce‐González, R., Chacon-Camacho, O. F., Ordoñez‐Labastida, V., Graue-Hernández, E. O., Navas-Pérez, A., & Zenteno, J. C. (2022) · International Ophthalmology · doi:10.1007/s10792-022-02481-5 · Cited by 3 · see citing works
New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome
de Oteyza, G. G., Fernández-Engroba, J., & Charoenrook, V. M. (2023) · Cornea · doi:10.1097/ico.0000000000003280 · Cited by 3 · see citing works
Moore, P., Wolf, A., & Sathyamoorthy, M. (2023) · Life · doi:10.3390/life13081649 · Cited by 3 · see citing works
Genetic disorders affecting the cornea
(2022) · Elsevier eBooks · doi:10.1016/b978-0-12-813944-8.00009-3 · Cited by 2 · see citing works
- Authors
- Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Madden, C., Dodds, A., Chandler, K. E., Banka, S., Au, L., Clayton-Smith, J., Khan, N., Biesecker, L. G., Wilson, M., Rohrbach, M., Colombi, M., Giunta, C., & Black, G. C. M.
- Affiliations
- Manchester Academic Health Science Centre (GB)
- University of Manchester (GB)
- University of Brescia (IT)
- Manchester Royal Eye Hospital (GB)
- Manchester Royal Infirmary (GB)
- Royal Blackburn Teaching Hospital (GB)
- National Institutes of Health (US)
- Children's Hospital at Westmead (AU)
- University Children's Hospital Zurich (CH)
- Corresponding author
- Black, Graeme C.M.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2011-06
- Volume
- 88
- Issue
- 6
- Pages
- 767-777
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC3113239
- OpenAlex
- W2138624472
- Cited by
- 135
- References
- 28
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 14 · 2023: 10 · 2022: 7 · 2021: 14 · 2020: 12 · 2019: 7 · 2018: 8 · 2017: 9 · 2016: 6 · 2015: 11 · 2014: 7 · 2013: 10 · 2012: 8
- FWCI
- 6.61
- Type
- journal article
- Language
- en
- Update notices
- erratum (2011-08-12)
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Funders
- Wellcome Trust
- Topics
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Corneal surgery and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Ocular Disorders and Treatments
- Keywords
- brittle cornea syndrome, PRDM5, ZNF469, extracellular matrix, fibrillar collagen, connective tissue diseases, homozygosity mapping, central corneal thickness, keratoconus, myopia, deafness, genotype-phenotype correlation
- MeSH terms
- Child, DNA Mutational Analysis, DNA-Binding Proteins, Ehlers-Danlos Syndrome, Extracellular Matrix, Eye Abnormalities, Female, Humans, Joint Instability, Male, Mutation, Pedigree, Skin Abnormalities, Transcription Factors
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