TY - JOUR
T1 - SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
AU - Gilfillan, Gregor D.
AU - Selmer, Kaja K.
AU - Roxrud, Ingrid
AU - Smith, Raffaella
AU - Kyllerman, Mårten
AU - Eiklid, Kristin
AU - Kroken, Mette
AU - Mattingsdal, Morten
AU - Egeland, Thore
AU - Stenmark, Harald
AU - Sjøholm, Hans
AU - Server, Andres
AU - Samuelsson, Lena
AU - Christianson, Arnold
AU - Tarpey, Patrick
AU - Whibley, Annabel
AU - Stratton, Michael R.
AU - Futreal, P. Andrew
AU - Teague, Jon
AU - Edkins, Sarah
AU - Gecz, Jozef
AU - Turner, Gillian
AU - Raymond, F. Lucy
AU - Schwartz, Charles
AU - Stevenson, Roger E.
AU - Undlien, Dag E.
AU - Strømme, Petter
N1 - Funding Information:
We thank the patients and their families for their cooperation. O. Flesvig and L. Tveten (Department of Habilitation, Innlandet Hospital, Norway) managed the habilitation program for the Norwegian patients. F.A. Chaudhry (Center for Molecular Biology and Neuroscience, University of Oslo, Norway) and J. Clayton-Smith (Department of Clinical Genetics, St Mary's Hospital, Manchester General, UK) contributed with valuable comments on this work. We thank B. Birkenes and K. Brandal for excellent technical assistance and R. Lyle (Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway) for helpful suggestions. We are grateful to S. Mohammed (Clinical Genetics, Guy's Hospital, London, UK), W.B. Dobyns (Department of Human Genetics, University of Chicago, Chicago, USA), J. Rodriguez, and A. Srivastava (Greenwood Genetic Center, Greenwood, SC, USA) for providing DNA samples, and we thank Ban-Hock Toh (Monash University, Melbourne, Australia) and Jean Gruenberg (University of Geneva, Geneva, Switzerland) for gifts of antibodies. The study was financially supported by the Norwegian Eastern Regional Health Authorities, a National Institute of Neurological Diseases and Stroke (NINDS) grant (NS31564) (USA), a National Institute of Child Health and Human Development (NICHD) grant (HD2606) (USA), the Wellcome Trust (UK), and the South Carolina Department of Disabilities and Special Needs. None of the authors of this work has a financial interest related to this work.
PY - 2008/4/11
Y1 - 2008/4/11
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=41549149493&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2008.01.013
DO - 10.1016/j.ajhg.2008.01.013
M3 - Article
C2 - 18342287
AN - SCOPUS:41549149493
SN - 0002-9297
VL - 82
SP - 1003
EP - 1010
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 4
ER -