Cited by 232Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesGenomic variations and chromosomal abnormalities

The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Open access

Gilfillan, Gregor D., Selmer, Kaja K., Roxrud, Ingrid, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, Kroken, Mette, Mattingsdal, Morten, Egeland, Thore, Stenmark, Harald, Sjøholm, Hans, Server, Andres, Samuelsson, Lena, Christianson, Arnold, Tarpey, Patrick, Whibley, Annabel, Stratton, Michael R., Futreal, P. Andrew, Teague, Jon, Edkins, Sarah, Gecz, Jozef, Turner, Gillian, Raymond, F. Lucy, Schwartz, Charles, Stevenson, Roger E., Undlien, Dag E., Strømme, Petter·2008·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2008.01.013PMC PMC2427207

Open this paper in CoChat — free account Open PDF

Abstract

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

Integrity signals

Registry

Crossref · 10.1016/j.ajhg.2008.01.013

Cites

38 of 38 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Electroencephalography—Basic principles, clinical applications and related fields
(1982) · Journal of the Autonomic Nervous System · doi:10.1016/0165-1838(82)90067-4 · Cited by 3,449
Electroencephalography: Basic Principles, Clinical Applications and Related Fields
Torres, F. (1983) · Archives of Neurology · doi:10.1001/archneur.1983.04050030085025 · Cited by 1,825
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.
Allen, R. C., Zoghbi, H. Y., Moseley, A., Rosenblatt, H. M., & Belmont, J. W. (1992) · PubMed · Cited by 1,683
Glutamate as a neurotransmitter in the brain: review of physiology and pathology
Meldrum, B. S. (2000) · The Journal of Nutrition · doi:10.1093/jn/130.4.1007s · Cited by 1,667
Plasticity in the human central nervous system
Cooke, S. F. (2006) · Brain · doi:10.1093/brain/awl082 · Cited by 1,260
A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
Nagy, E., & Maquat, L. E. (1998) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(98)01208-0 · Cited by 1,187
Allele-sharing models: LOD scores and accurate linkage tests.
Kong, A., & Cox, N. (1997) · American Journal of Human Genetics · doi:10.1086/301592 · Cited by 1,036
Angelman syndrome: a review of the clinical and genetic aspects
Clayton-Smith, J., & Laan, L. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.2.87 · Cited by 687
Diversity of the mammalian sodium/proton exchanger SLC9 gene family
Orlowski, J., & Grinstein, S. (2004) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-003-1110-3 · Cited by 659
Angelman syndrome 2005: Updated consensus for diagnostic criteria
Williams, C. A., Beaudet, A. L., Clayton‐Smith, J., Knoll, J. H. M., Kyllerman, M., Laan, L., Magenis, R. E., Moncla, A., Schinzel, A., Summers, J., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31074 · Cited by 626

Show all 38 references

Sorted by citations

A developmental and genetic classification for malformations of cortical development: update 2012
Barkovich, A. J., Guerrini, R., Kuzniecky, R., Jackson, G. D., & Dobyns, W. B. (2012) · Brain · doi:10.1093/brain/aws019 · Cited by 1,146
Identifying autism loci and genes by tracing recent shared ancestry
Morrow, E. M., Yoo, S.-Y., Flavell, S. W., Kim, T.-K., Lin, Y., Hill, R. S., Mukaddes, N. M., Balkhy, S., Gascon, G., Hashmi, A., et al. (2008) · Science · doi:10.1126/science.1157657 · Cited by 737
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.367 · Cited by 603
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H., Haas, S. A., Chelly, J., Esch, H. V., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.193 · Cited by 317
Neurotransmitter Corelease: Mechanism and Physiological Role
Hnasko, T. S., & Edwards, R. H. (2012) · Annual Review of Physiology · doi:10.1146/annurev-physiol-020911-153315 · Cited by 284
“Interestingly, recent human genetic studies have implicated intracellular isoform NHE6 in Angelman syndrome (75) and NHE9 in autism (76).”
SLC9/NHE gene family, a plasma membrane and organellar family of Na+/H+ exchangers
Donowitz, M., Tse, C., & Fuster, D. G. (2013) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2012.05.001 · Cited by 282
Ion flux and the function of endosomes and lysosomes: pH is just the start
Scott, C. C., & Grüenberg, J. (2010) · BioEssays · doi:10.1002/bies.201000108 · Cited by 278
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
Kortüm, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A. C., Horn, D., Klopocki, E., Kluger, G. J., Martin, P., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.087528 · Cited by 243
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Trump, N., McTague, A., Brittain, H. K., Papandreou, A., Meyer, E., Ngoh, A. S. F., Palmer, R. W., Morrogh, D., Boustred, C. R., Hurst, J. A., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103263 · Cited by 215
The genetic landscape of intellectual disability arising from chromosome X
Gécz, J., Shoubridge, C., & Corbett, M. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.05.002 · Cited by 207
Genetics of intellectual disability
Ropers, H. H. (2008) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2008.07.008 · Cited by 199
The SLC9A-C Mammalian Na + /H + Exchanger Family: Molecules, Mechanisms, and Physiology
Pedersen, S. F., & Counillon, L. (2019) · Physiological Reviews · doi:10.1152/physrev.00028.2018 · Cited by 191
Traditional and emerging roles for the SLC9 na+/H+ exchangers
Fuster, D. G., & Alexander, R. T. (2014) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-013-1408-8 · Cited by 159
Self-domestication in Homo sapiens: Insights from comparative genomics
Theofanopoulou, C., Gastaldon, S., O’Rourke, T., Samuels, B. D., Messner, A., Martins, P. T., Delogu, F., Alamri, S., & Boeckx, C. (2017) · PLOS ONE · doi:10.1371/journal.pone.0185306 · Cited by 174
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development
Ouyang, Q., Lizarraga, S. B., Schmidt, M., Yang, U., Gong, J., Ellisor, D., Kauer, J. A., & Morrow, E. M. (2013) · Neuron · doi:10.1016/j.neuron.2013.07.043 · Cited by 144
Molecular and Clinical Aspects of Angelman Syndrome
Dagli, A. I., Buiting, K., & Williams, C. A. (2011) · Molecular Syndromology · doi:10.1159/000328837 · Cited by 141
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
Ramsden, S., Clayton‐Smith, J., Birch, R. C., & Buiting, K. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-70 · Cited by 140
Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
Whibley, A. C., Plagnol, V., Tarpey, P. S., Abidi, F., Fullston, T., Choma, M. K., Boucher, C. A., Shepherd, L., Willatt, L. R., Parkin, G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.06.017 · Cited by 135
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
Courcet, J.-B., Faivre, L., Malzac, P., Masurel-Paulet, A., Lopez, E., Callier, P., Lambert, L., Lemesle, M., Thevenon, J., Gigot, N., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101251 · Cited by 121
If not Angelman, what is it? a review of Angelman‐like syndromes
Tan, W., Bird, L. M., Thibert, R. L., & Williams, C. A. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36416 · Cited by 128
Angelman syndrome: Mutations influence features in early childhood
Tan, W., Bacino, C. A., Skinner, S. A., Anselm, I. A., Barbieri‐Welge, R. L., Bauer‐Carlin, A., Beaudet, A. L., Bichell, T. J., Gentile, J. K., Glaze, D. G., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33775 · Cited by 127
Determinants, maintenance, and function of organellar pH
Freeman, S. A., Grinstein, S., & Orlowski, J. (2022) · Physiological Reviews · doi:10.1152/physrev.00009.2022 · Cited by 127
Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders
Spooren, W., Lindemann, L., Ghosh, A., & Santarelli, L. (2012) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2012.09.004 · Cited by 119
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
Schuurs-Hoeijmakers, J. H. M., Silfhout, A. T. V., Vissers, L. E. L. M., van de Vondervoort, I. I. G. M., van Bon, B. W. M., de Ligt, J., Gilissen, C., Hehir‐Kwa, J. Y., Neveling, K., del Rosario, M., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101644 · Cited by 127
X-linked intellectual disability update 2017
Neri, G., Schwartz, C. E., Lubs, H. A., & Stevenson, R. E. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38710 · Cited by 117
Self-citation
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
Garbern, J. Y., Neumann, M., Trojanowski, J. Q., Lee, V. M. ‐., Feldman, G. L., Norris, J. W., Friez, M. J., Schwartz, C. E., Stevenson, R. E., & Sima, A. A. F. (2010) · Brain · doi:10.1093/brain/awq071 · Cited by 117
Genetic control of postnatal human brain growth
van Dyck, L. I., & Morrow, E. M. (2016) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000405 · Cited by 114
Na + /H + Exchangers
Orlowski, J., & Grinstein, S. (2011) · Comprehensive physiology · doi:10.1002/cphy.c110020 · Cited by 109
Organellar Na+/H+ Exchangers: Novel Players in Organelle pH Regulation and Their Emerging Functions
Ohgaki, R., van IJzendoorn, S. C. D., Matsushita, M., Hoekstra, D., & Kanazawa, H. (2010) · Biochemistry · doi:10.1021/bi101082e · Cited by 101
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia
Elsaid, M. F., Chalhoub, N., Ben‐Omran, T., Kumar, P., Kamel, H., Ibrahim, K. O., Mohamoud, Y. A., Al‐Dous, E., Al-Azwani, I. K., Malek, J. A., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24826 · Cited by 93
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction
Strømme, P., Dobrenis, K., Sillitoe, R. V., Gulinello, M. E., Ali, N. F., Davidson, C. D., Micsenyi, M. C., Stephney, G. W., Ellevog, L., Klungland, A., et al. (2011) · Brain · doi:10.1093/brain/awr250 · Cited by 100
Functional evaluation of autism-associated mutations in NHE9
Kondapalli, K. C., Hack, A., Schushan, M., Landau, M., Ben‐Tal, N., & Rao, R. (2013) · Nature Communications · doi:10.1038/ncomms3510 · Cited by 96
An inside job: how endosomal Na+/H+ exchangers link to autism and neurological disease
Kondapalli, K. C., Prasad, H., & Rao, R. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00172 · Cited by 97
Genetic disorders associated with postnatal microcephaly
Seltzer, L. E., & Paciorkowski, A. R. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31400 · Cited by 91
Genetic and phenotypic diversity of NHE 6 mutations in C hristianson syndrome
Pescosolido, M. F., Stein, D. M., Schmidt, M., Achkar, C. M. E., Sabbagh, M. F., Rogg, J. M., Tantravahi, U., McLean, R. L., Liu, J. S.-H., Poduri, A., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24225 · Cited by 97
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Jaillard, S., Dubourg, C., Gérard‐Blanluet, M., Delahaye‐Duriez, A., Pasquier, L., Dupont, C., Henry, C., Tabet, A.-C., Lucas, J., Aboura, A., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.058156 · Cited by 92
Emerging roles of Na+/H+ exchangers in epilepsy and developmental brain disorders
Zhao, H., Carney, K. E., Falgoust, L., Pan, J. W., Sun, D., & Zhang, Z. (2016) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2016.02.002 · Cited by 89
Genome-Wide Analysis Reveals the Vacuolar pH-Stat of Saccharomyces cerevisiae
Brett, C. L., Kallay, L. M., Hua, Z., Green, R. R., Chyou, A., Zhang, Y., Graham, T. R., Donowitz, M., & Rao, R. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017619 · Cited by 86
Sodium-Proton (Na+/H+) Antiporters: Properties and Roles in Health and Disease
Padan, E., & Landau, M. (2016) · Metal ions in life sciences · doi:10.1007/978-3-319-21756-7_12 · Cited by 83
Endosomal pH in neuronal signaling and synaptic transmission: role of Na+/H+ exchanger NHE5
Diering, G. H., & Numata, M. (2014) · Frontiers in Physiology · doi:10.3389/fphys.2013.00412 · Cited by 78
Natural history of Christianson syndrome
Schroer, R. J., Holden, K. R., Tarpey, P. S., Matheus, M. G., Griesemer, D. A., Friez, M. J., Fan, J., Simensen, R. J., Strømme, P., Stevenson, R. E., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33093 · Cited by 76
Presynaptic regulation of quantal size: K+/H+ exchange stimulates vesicular glutamate transport
Goh, G. Y. L., Huang, H. Y., Ullman, J. C., Borre, L., Hnasko, T. S., Trussell, L. O., & Edwards, R. H. (2011) · Nature Neuroscience · doi:10.1038/nn.2898 · Cited by 76
The Na+/H+ Exchanger NHE6 Modulates Endosomal pH to Control Processing of Amyloid Precursor Protein in a Cell Culture Model of Alzheimer Disease
Prasad, H., & Rao, R. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.602219 · Cited by 76
The Na+/H+Exchanger NHE6 in the Endosomal Recycling System Is Involved in the Development of Apical Bile Canalicular Surface Domains in HepG2 Cells
Ohgaki, R., Matsushita, M., Kanazawa, H., Ogihara, S., Hoekstra, D., & van IJzendoorn, S. C. D. (2010) · Molecular Biology of the Cell · doi:10.1091/mbc.e09-09-0767 · Cited by 72
Identification of genomic variants putatively targeted by selection during dog domestication
Cagan, A., & Blass, T. (2016) · BMC Evolutionary Biology · doi:10.1186/s12862-015-0579-7 · Cited by 69
Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin
Xinhan, L., Matsushita, M., Numaza, M., Taguchi, A., Mitsui, K., & Kanazawa, H. (2011) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00154.2011 · Cited by 69
Hypoxia-induced mobilization of NHE6 to the plasma membrane triggers endosome hyperacidification and chemoresistance
Lucien, F., Pelletier, P.-P., Lavoie, R. R., Lacroix, J.-M., Roy, S., Parent, J.-L., Arsenault, D., Harper, K., & Dubois, C. M. (2017) · Nature Communications · doi:10.1038/ncomms15884 · Cited by 66
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
Beygo, J., Buiting, K., Ramsden, S., Ellis, R., Clayton‐Smith, J., & Kanber, D. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0435-0 · Cited by 69
Structure and elevator mechanism of the mammalian sodium/proton exchanger NHE9
Winkelmann, I., Matsuoka, R., Meier, P. F., Shutin, D., Zhang, C., Orellana, L., Sexton, R., Landreh, M., Robinson, C. V., Beckstein, O., et al. (2020) · The EMBO Journal · doi:10.15252/embj.2020105908 · Cited by 68
The expanding spectrum of movement disorders in genetic epilepsies
Papandreou, A., Danti, F. R., Spaull, R., Leuzzi, V., McTague, A., & Kurian, M. A. (2019) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.14407 · Cited by 65
Genes for endosomal NHE6 and NHE9 are misregulated in autism brains
Schwede, M., Garbett, K. A., Mirnics, K., Geschwind, D. H., & Morrow, E. M. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.28 · Cited by 61
Loss of the Na+/H+ exchanger NHE8 causes male infertility in mice by disrupting acrosome formation
Oberheide, K., Puchkov, D., & Jentsch, T. J. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.784108 · Cited by 59
Loss of Christianson Syndrome Na + /H + Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons
Pescosolido, M. F., Ouyang, Q., Liu, J. S.-H., & Morrow, E. M. (2021) · Journal of Neuroscience · doi:10.1523/jneurosci.1244-20.2021 · Cited by 52
Enhanced Recruitment of Endosomal Na + /H + Exchanger NHE6 into Dendritic Spines of Hippocampal Pyramidal Neurons during NMDA Receptor-Dependent Long-Term Potentiation
Deane, E. C., Ilie, A. E., Sizdahkhani, S., Das Gupta, M., Orlowski, J., & McKinney, R. A. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.2583-12.2013 · Cited by 51
Golgipathies in Neurodevelopment: A New View of Old Defects
Rasika, S., Passemard, S., Verloès, A., Gressèns, P., & Ghouzzi, V. E. (2018) · Developmental Neuroscience · doi:10.1159/000497035 · Cited by 51
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease
Roxrud, I., Raiborg, C., Gilfillan, G. D., Strømme, P., & Stenmark, H. (2009) · Experimental Cell Research · doi:10.1016/j.yexcr.2009.07.012 · Cited by 54
Self-citation
The Angelman Syndrome Protein Ube3a/E6AP Is Required for Golgi Acidification and Surface Protein Sialylation
Condon, K. H., Ho, J., Robinson, C. G., Hanus, C., & Ehlers, M. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.1930-11.2013 · Cited by 51
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
Uzun, E. D. G., Sciarra, L. N., Maguire, A. M., Pescosolido, M. F., van Dyck, L. I., & Morrow, E. M. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0363-9 · Cited by 45
The Intracellular Na+/H+ Exchanger NHE7 Effects a Na+-Coupled, but Not K+-Coupled Proton-Loading Mechanism in Endocytosis
Milosavljevic, N., Monet, M., Léna, I., Brau, F., Lacas‐Gervais, S., Feliciangeli, S. F., Counillon, L., & Poët, M. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.03.054 · Cited by 48
Decreased Brain pH and Pathophysiology in Schizophrenia
Park, H. J., Choi, I., & Leem, K. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22168358 · Cited by 48
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)
Zanni, G., Barresi, S., Cohen, R., Specchio, N., Basel‐Vanagaite, L., Valente, E. M., Shuper, A., Vigevano, F., & Bertini, E. (2014) · Epilepsy Research · doi:10.1016/j.eplepsyres.2014.02.009 · Cited by 43
Mechanisms regulating dendritic arbor patterning
Ledda, F., & Paratcha, G. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2588-8 · Cited by 43
Genetic Imprinting: The Paradigm of Prader-Willi and Angelman Syndromes
Gurrieri, F., & Accadia, M. (2009) · Endocrine development · doi:10.1159/000207473 · Cited by 42
The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
Brand, B. A., Blesson, A. E., & Smith-Hicks, C. L. (2021) · Brain Sciences · doi:10.3390/brainsci11070904 · Cited by 39
SLC9A9 mutations, gene expression, and protein–protein interactions in rat models of attention‐deficit/hyperactivity disorder
Zhang‐James, Y., DasBanerjee, T., Sagvolden, T., Middleton, F. A., & Faraone, S. V. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31229 · Cited by 39
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation
Khayat, W., Hackett, A., Shaw, M. A., Ilie, A., Dudding‐Byth, T., Kalscheuer, V. M., Christie, L., Corbett, M. A., Juusola, J., Friend, K. L., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy371 · Cited by 40
The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature
Sinajon, P., Verbaan, D., & So, J. (2016) · Human Genetics · doi:10.1007/s00439-016-1675-5 · Cited by 38
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies
Shbarou, R. M., & Mikati, M. A. (2016) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2016.06.002 · Cited by 37
Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients
Koh, J., Lim, J. S., Byun, H.-R., & Yoo, M.-H. (2014) · Molecular Brain · doi:10.1186/s13041-014-0064-z · Cited by 37
Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain
Lee, Y., Miller, M. R., Fernandez, M. A., Berg, E. L., Prada, A. M., Ouyang, Q., Schmidt, M., Silverman, J. L., Young‐Pearse, T. L., & Morrow, E. M. (2021) · Brain · doi:10.1093/brain/awab467 · Cited by 36
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum
Mignot, C., Héron, D., Bursztyn, J., Momtchilova, M., Mayer, M., Whalen, S., Legall, A., de Villemeur, T. B., & Bürglen, L. (2012) · Brain and Development · doi:10.1016/j.braindev.2012.03.010 · Cited by 35
A loss‐of‐function mutation in the SLC9A6 gene causes X‐linked mental retardation resembling Angelman syndrome
Takahashi, Y., Hosoki, K., Matsushita, M., Funatsuka, M., Saito, K., Kanazawa, H., Goto, Y., & Saitoh, S. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31221 · Cited by 35
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterPreprint
Santoni, F. A., Makrythanasis, P., Nikolaev, S. I., Guipponi, M., Robyr, D., Bottani, A., & Antonarakis, S. E. (2014) · Genome Research · doi:10.1101/gr.163832.113 · Cited by 34
A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry
Ullman, J. C., Yang, J., Sullivan, M., Bendor, J., Levy, J. M., Pham, E., Silm, K., Seifikar, H., Sohal, V. S., Nicoll, R. A., et al. (2018) · Nature Communications · doi:10.1038/s41467-017-02716-5 · Cited by 32
Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature
Schönewolf‐Greulich, B., Bisgaard, A., Møller, R. S., Dunø, M., Brøndum‐Nielsen, K., Kaur, S., Bergen, N. J. V., Lunke, S., Eggers, S., Jespersgaard, C., et al. (2017) · Clinical Genetics · doi:10.1111/cge.13153 · Cited by 32
AlteredGPM6A/M6Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human andDrosophila
Gregor, A., Kramer, J. M., van der Voet, M., Schanze, I., Uebe, S., Donders, R. A. R. T., Reis, A., Schenck, A., & Zweier, C. (2014) · Human Mutation · doi:10.1002/humu.22697 · Cited by 32
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
Vandewalle, J., Bauters, M., Esch, H. V., Belet, S., Verbeeck, J., Fieremans, N., Holvoet, M., Vento, J. M., Spreiz, A., Kotzot, D., et al. (2013) · Human Genetics · doi:10.1007/s00439-013-1322-3 · Cited by 32
Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?
Marcián, V., Filip, P., Bareš, M., & Brázdil, M. (2016) · PubMed Central · doi:10.7916/d80z73mn · Cited by 31
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
Ibarluzea, N., de la Hoz, A. B., Villate, O., Llano‐Rivas, I., Ocio, I., Martí, I., Guitart, M., Gabau, E., Andrade, F., Gener, B., et al. (2020) · Genes · doi:10.3390/genes11010051 · Cited by 32
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies
Lizarraga, S. B., Ma, L., Maguire, A. M., van Dyck, L. I., Wu, Q., Ouyang, Q., Kavanaugh, B. C., Nagda, D., Livi, L. L., Pescosolido, M. F., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.aaw0682 · Cited by 33
Novel SLC9A6 mutations in two families with Christianson syndrome
Riess, A., Rossier, E., Krüger, R., Dufke, A., Beck‐Woedl, S., Horber, V., Alber, M., Gläser, D., Rieß, O., & Tzschach, A. (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01948.x · Cited by 31
X-linked disorders with cerebellar dysgenesis
Zanni, G., & Bertini, E. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-24 · Cited by 31
The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc
Greer, P. L., Hanayama, R., Bloodgood, B. L., Mardinly, A. R., Lipton, D. M., Flavell, S. W., Kim, T.-K., Griffith, E. C., Waldon, Z., Maehr, R., et al. (2010) · Cell · doi:10.1016/j.cell.2010.01.026 · Cited by 30
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population
Mir, A., Almudhry, M., Alghamdi, F., Albaradie, R., Ibrahim, M. H., Aldurayhim, F., Alhedaithy, A., Alamr, M., Bawazir, M., Mohammad, S., et al. (2021) · Human Genetics · doi:10.1007/s00439-021-02404-x · Cited by 30
Lessons learnt from large-scale exon re-sequencing of the X chromosome
Raymond, F. L., Whibley, A. C., Stratton, M. R., & Gécz, J. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp071 · Cited by 29
A Christianson syndrome-linked deletion mutation (∆287ES288) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death
Ilie, A., Gao, A. Y. L., Reid, J., Boucher, A., McEwan, C., Barrière, H., Lukács, G. L., McKinney, R. A., & Orlowski, J. (2016) · Molecular Neurodegeneration · doi:10.1186/s13024-016-0129-9 · Cited by 31
Mixed Neurodevelopmental and Neurodegenerative Pathology inNhe6-Null Mouse Model of Christianson Syndrome
Xu, M., Ouyang, Q., Gong, J., Pescosolido, M. F., Pruett, B. S., Mishra, S., Schmidt, M., Jones, R. N., Uzun, E. D. G., Lizarraga, S. B., et al. (2017) · eNeuro · doi:10.1523/eneuro.0388-17.2017 · Cited by 30
An Integrated Model of Minor Intron Emergence and Conservation
Baumgartner, M., Drake, K. D., & Kanadia, R. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.01113 · Cited by 25
Implications of sodium hydrogen exchangers in various brain diseases
Verma, V., Bali, A., Singh, N., & Jaggi, A. S. (2015) · Journal of Basic and Clinical Physiology and Pharmacology · doi:10.1515/jbcpp-2014-0117 · Cited by 29
X-linked ataxias
Zanni, G., & Bertini, E. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64189-2.00011-1 · Cited by 27
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
Masurel, A., Piton, A., Chancenotte, S., Redin, C. E., Thauvin‐Robinet, C., Henrenger, Y., Minot, D., Creppy, A., Ruffier‐Bourdet, M., Thévenon, J., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37765 · Cited by 27
Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome
Petitjean, H., Fatima, T., Mouchbahani-Constance, S., Davidova, A., Ferland, C. E., Orlowski, J., & Sharif-Naeini, R. (2020) · Pain · doi:10.1097/j.pain.0000000000001961 · Cited by 19
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
McSherry, M. L., Masih, K. E., Elcioglu, N. H., Çelik, P., Balci, Ö., Cengiz, F. B., Nunez, D., Sineni, C. J., Seyhan, S., Kocaoglu, D., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0208324 · Cited by 25
NHX-5, an endosomal Na+/H+ exchanger, is associated with metformin action
Kim, J., Lee, H.-Y., Ahn, J., Hyun, M., Lee, I., Min, K.-J., & You, Y.-J. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.c116.744037 · Cited by 25
Potential therapeutic approaches for Angelman syndrome
Bi, X., Sun, J., Ji, A. X., & Baudry, M. (2015) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.2016.1115837 · Cited by 27
Endosomal Acid-Base Homeostasis in Neurodegenerative Diseases
Prasad, H., & Rao, R. (2020) · Reviews of physiology, biochemistry and pharmacology · doi:10.1007/112_2020_25 · Cited by 25
Age-related changes of gene expression in the neocortex: Preliminary data on RNA-Seq of the transcriptome in three functionally distinct cortical areas
Naumova, O. Y., Palejev, D., Vlasova, N. V., Lee, M., Rychkov, S. Y., Babich, O. N., Vaccarino, F. M., & Grigorenko, E. L. (2012) · Development and Psychopathology · doi:10.1017/s0954579412000818 · Cited by 25
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome
Ilie, A., Gao, A. Y. L., Boucher, A., Park, J., Berghuis, A. M., Hoffer, M. J. V., Hilhorst-Hofstee, Y., McKinney, R. A., & Orlowski, J. (2019) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.10.002 · Cited by 26
The Na + (K + )/H + exchanger Nhx1 controls multivesicular body–vacuolar lysosome fusion
Karim, M. A., & Brett, C. L. (2017) · Molecular Biology of the Cell · doi:10.1091/mbc.e17-08-0496 · Cited by 24
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities
Sikora, J., Leddy, J., Gulinello, M. E., & Walkley, S. U. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.022780 · Cited by 24

Authors: Gilfillan, G. D., Selmer, K. K., Roxrud, I., Smith, R., Kyllerman, M., Eiklid, K., Kroken, M., Mattingsdal, M., Egeland, T., Stenmark, H., Sjøholm, H., Server, A., Samuelsson, L., Christianson, A., Tarpey, P., Whibley, A., Stratton, M. R., Futreal, P. A., Teague, J., Edkins, S., Gecz, J., Turner, G., Raymond, F. L., Schwartz, C., Stevenson, R. E., Undlien, D. E., & Strømme, P.
Affiliations: Oslo University Hospital (NO)
Wellcome Sanger Institute (GB)
University of Gothenburg (SE)
Sahlgrenska University Hospital (SE)
National Health Laboratory Service (ZA)
University of Cambridge (GB)
Hunter Genetics (AU)
Greenwood Genetic Center (US)
Corresponding author: Strømme, Petter
ORCID: Gilfillan, Gregor D.
Selmer, Kaja K.
Mattingsdal, Morten
Egeland, Thore
Stenmark, Harald
Samuelsson, Lena
Tarpey, Patrick
Whibley, Annabel
Stratton, Michael R.
Futreal, P. Andrew
Teague, Jon
Edkins, Sarah
Turner, Gillian
Raymond, F. Lucy
Schwartz, Charles
Stevenson, Roger E.
Strømme, Petter
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2008-04
Volume: 82
Issue: 4
Pages: 1003-1010
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2008.01.013
PMC: PMC2427207
OpenAlex: W2017173296
Cited by: 232
References: 38
Citations by year: 2026: 6 · 2025: 10 · 2024: 10 · 2023: 9 · 2022: 8 · 2021: 14 · 2020: 9 · 2019: 11 · 2018: 12 · 2017: 14 · 2016: 21 · 2015: 13 · 2014: 14 · 2013: 20 · 2012: 14
FWCI: 8.74
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1935 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
NOVA (University of Newcastle Australia) (submittedVersion)
Funders: Wellcome Trust
National Institute of Neurological Disorders and Stroke (NS-31564, R01NS031564)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD2606)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords: SLC9A6, NHE6, X-linked intellectual disability, Angelman syndrome, Christianson syndrome, microcephaly, epilepsy, ataxia, Na+/H+ exchanger, gene deletion, X-linked inheritance, differential diagnosis
MeSH terms: Adult, Ataxia, Child, Child, Preschool, DNA Mutational Analysis, Electroencephalography, Epilepsy, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins, Microcephaly, Mutation, Pedigree, Phenotype, Syndrome, Angelman Syndrome, Sodium-Hydrogen Exchangers, X-Linked Intellectual Disability

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks