SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome by 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 in American journal of human genetics (2008).

[PMID: 18342287] PubMed


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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