2. Academic Validation
  3. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

  • Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013.
Gregor D Gilfillan 1,  Kaja K Selmer,  Ingrid Roxrud,  Raffaella Smith,  Mårten Kyllerman,  Kristin Eiklid,  Mette Kroken,  Morten Mattingsdal,  Thore Egeland,  Harald Stenmark,  Hans Sjøholm,  Andres Server,  Lena Samuelsson,  Arnold Christianson,  Patrick Tarpey,  Annabel Whibley,  Michael R Stratton,  P Andrew Futreal,  Jon Teague,  Sarah Edkins,  Jozef Gecz,  Gillian Turner,  F Lucy Raymond,  Charles Schwartz,  Roger E Stevenson,  Dag E Undlien,  Petter Strømme
Affiliations

Affiliation

  • 1 Department of Medical Genetics, Ullevål University Hospital, NO-0407 Oslo, Norway.
PMID: 18342287 DOI: 10.1016/j.ajhg.2008.01.013
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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