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Type: Journal article
Title: SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Author: Gilfillan, G.
Selmer, K.
Roxrud, I.
Smith, R.
Kyllerman, M.
Eiklid, K.
Kroken, M.
Mattingsdal, M.
Egeland, T.
Stenmark, H.
Sjoholm, H.
Server, A.
Samuelsson, L.
Christianson, A.
Tarpey, P.
Whibley, A.
Stratton, M.
Futreal, P.
Teague, J.
Edkins, S.
et al.
Citation: American Journal of Human Genetics, 2008; 82(4):1003-1010
Publisher: Univ Chicago Press
Issue Date: 2008
ISSN: 0002-9297
Statement of
Gregor D. Gilfillan...Jozef Gecz... et al.
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.
Keywords: Humans; Microcephaly; Epilepsy; Angelman Syndrome; Ataxia; Mental Retardation, X-Linked; Syndrome; Sodium-Hydrogen Antiporter; Membrane Proteins; Magnetic Resonance Imaging; Electroencephalography; Pedigree; DNA Mutational Analysis; Phenotype; Mutation; Adult; Child; Child, Preschool; Male
Description: Copyright © 2008 The American Society of Human Genetics
RMID: 0020080556
DOI: 10.1016/j.ajhg.2008.01.013
Appears in Collections:Paediatrics publications

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