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

doi:10.1016/j.ajhg.2008.01.013

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Article

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

American journal of human genetics - 1 Apr 2008

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

Abstract excerpt

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...

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Identifiers

PMID: 18342287
DOI: 10.1016/j.ajhg.2008.01.013
PMCID: PMC2427207

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