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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
American Journal of Human Genetics, Volume 82, No. 4, Year 2008
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Description
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. © 2008 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC2427207/bin/mmc1.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC2427207/bin/mmc2.mpg
https://efashare.b-cdn.net/share/pmc/articles/PMC2427207/bin/mmc3.mpg
Authors & Co-Authors
Gilfillan, Gregor D.
Norway, Oslo
Ulleval University Hospital
Selmer, Kaja K.
Norway, Oslo
Ulleval University Hospital
Roxrud, Ingrid
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Smith, Raffaella
United Kingdom, Hinxton
Wellcome Sanger Institute
Kyllerman, Mårten
Sweden, Gothenburg
Drottning Silvias Barnsjukhus
Eiklid, Kristin
Norway, Oslo
Ulleval University Hospital
Kroken, Mette
Norway, Oslo
Ulleval University Hospital
Mattingsdal, Morten
Norway, Oslo
Ulleval University Hospital
Egeland, Thore
Norway, Oslo
Ulleval University Hospital
Stenmark, Harald
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Sjøholm, Hans
Norway, Oslo
Ulleval University Hospital
Server, Andres
Norway, Oslo
Ulleval University Hospital
Samuelsson, Lena
Sweden, Gothenburg
Sahlgrenska Universitetssjukhuset
Christianson, Arnold L.
South Africa, Johannesburg
University of the Witwatersrand
Tarpey, Patrick S.
United Kingdom, Hinxton
Wellcome Sanger Institute
Whibley, Annabel C.
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Michael R. Stratton, Michael R.
United Kingdom, Hinxton
Wellcome Sanger Institute
Futreal, Phillip Andrew
United Kingdom, Hinxton
Wellcome Sanger Institute
Teague, Jon W.
United Kingdom, Hinxton
Wellcome Sanger Institute
Edkins, Sarah J.
United Kingdom, Hinxton
Wellcome Sanger Institute
Gécz, J.
Australia, Adelaide
Women's and Children's Hospital Adelaide
Turner, Gillian M.
Australia, Callaghan
The University of Newcastle, Australia
Raymond, Frances Lucy
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Schwartz, Charles E.
United States, Greenwood
Greenwood Genetics Center
Stevenson, Roger E.
United States, Greenwood
Greenwood Genetics Center
Undlien, Dag Erik
Norway, Oslo
Ulleval University Hospital
Strömme, Petter
Norway, Oslo
Ulleval University Hospital
Statistics
Citations: 216
Authors: 27
Affiliations: 10
Identifiers
Doi:
10.1016/j.ajhg.2008.01.013
ISSN:
00029297
Research Areas
Genetics And Genomics
Participants Gender
Male