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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

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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
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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.

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Crossref · 10.1016/j.ajhg.2008.01.013

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Metadata

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
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
Licence
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

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