SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Am J Hum Genet
; 82(4): 1003-10, 2008 Apr.
Article
em En
| MEDLINE
| ID: mdl-18342287
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Ataxia
/
Trocadores de Sódio-Hidrogênio
/
Deficiência Intelectual Ligada ao Cromossomo X
/
Epilepsia
/
Proteínas de Membrana
/
Microcefalia
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Am J Hum Genet
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Noruega