title: SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
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.
authors.affiliation: Department of Medical Genetics, Ullevål University Hospital, NO-0407 Oslo, Norway.
authors.forename: Gregor D
authors.initials: GD
authors.lastname: Gilfillan
authors.forename: Kaja K
authors.initials: KK
authors.lastname: Selmer
authors.forename: Ingrid
authors.initials: I
authors.lastname: Roxrud
authors.forename: Raffaella
authors.initials: R
authors.lastname: Smith
authors.forename: Mårten
authors.initials: M
authors.lastname: Kyllerman
authors.forename: Kristin
authors.initials: K
authors.lastname: Eiklid
authors.forename: Mette
authors.initials: M
authors.lastname: Kroken
authors.forename: Morten
authors.initials: M
authors.lastname: Mattingsdal
authors.forename: Thore
authors.initials: T
authors.lastname: Egeland
authors.forename: Harald
authors.initials: H
authors.lastname: Stenmark
authors.forename: Hans
authors.initials: H
authors.lastname: Sjøholm
authors.forename: Andres
authors.initials: A
authors.lastname: Server
authors.forename: Lena
authors.initials: L
authors.lastname: Samuelsson
authors.forename: Arnold
authors.initials: A
authors.lastname: Christianson
authors.forename: Patrick
authors.initials: P
authors.lastname: Tarpey
authors.forename: Annabel
authors.initials: A
authors.lastname: Whibley
authors.forename: Michael R
authors.initials: MR
authors.lastname: Stratton
authors.forename: P Andrew
authors.initials: PA
authors.lastname: Futreal
authors.forename: Jon
authors.initials: J
authors.lastname: Teague
authors.forename: Sarah
authors.initials: S
authors.lastname: Edkins
authors.forename: Jozef
authors.initials: J
authors.lastname: Gecz
authors.forename: Gillian
authors.initials: G
authors.lastname: Turner
authors.forename: F Lucy
authors.initials: FL
authors.lastname: Raymond
authors.forename: Charles
authors.initials: C
authors.lastname: Schwartz
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Dag E
authors.initials: DE
authors.lastname: Undlien
authors.forename: Petter
authors.initials: P
authors.lastname: Strømme
mesh_terms: D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics*; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; C445316:SLC9A6 protein, human; D017923:Sodium-Hydrogen Exchangers