SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
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.
Gilfillan
Gregor D
GD
Department of Medical Genetics, Ullevål University Hospital, NO-0407 Oslo, Norway.
Selmer
Kaja K
KK
Roxrud
Ingrid
I
Smith
Raffaella
R
Kyllerman
Mårten
M
Eiklid
Kristin
K
Kroken
Mette
M
Mattingsdal
Morten
M
Egeland
Thore
T
Stenmark
Harald
H
Sjøholm
Hans
H
Server
Andres
A
Samuelsson
Lena
L
Christianson
Arnold
A
Tarpey
Patrick
P
Whibley
Annabel
A
Stratton
Michael R
MR
Futreal
P Andrew
PA
Teague
Jon
J
Edkins
Sarah
S
Gecz
Jozef
J
Turner
Gillian
G
Raymond
F Lucy
FL
Schwartz
Charles
C
Stevenson
Roger E
RE
Undlien
Dag E
DE
Strømme
Petter
P
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
D008565:Membrane Proteins; C445316:SLC9A6 protein, human; D017923:Sodium-Hydrogen Exchangers