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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome |
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| Authors: | Gilfillan Gregor D Selmer Kaja K Roxrud Ingrid Smith Raffaella Kyllerman Mårten Eiklid Kristin Kroken Mette Mattingsdal Morten Egeland Thore Stenmark Harald Sjøholm Hans Server Andres Samuelsson Lena Christianson Arnold Tarpey Patrick Whibley Annabel Stratton Michael R Futreal P Andrew Teague Jon Edkins Sarah Gecz Jozef Turner Gillian Raymond F Lucy Schwartz Charles Stevenson Roger E Undlien Dag E Strømme Petter |
| Affiliation: | 1 Department of Medical Genetics, Ullevål University Hospital, NO-0407 Oslo, Norway 2 Faculty Division, Ullevål University Hospital, Faculty of Medicine, University of Oslo, NO-0316 Oslo, Norway 3 Department of Biochemistry, Institute for Cancer Research, Rikshospitalet-Radiumhospitalet Medical Center, NO-0310 Oslo, Norway 4 Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK 5 The Queen Silvia Children's Hospital, Gothenburg University, S-416 85 Gothenburg, Sweden 6 Section for Neurophysiology, Department of Neurology, Ullevål University Hospital, NO-0407 Oslo, Norway 7 Department of Neuroradiology, Ullevål University Hospital, NO-0407 Oslo, Norway 8 Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg University, S-416 85 Gothenburg, Sweden 9 Division of Human Genetics, National Health Laboratory Service and University of Witwatersrand, Johannesburg 2000, South Africa 10 Cambridge Institute of Medical Research, Cambridge, CB2 0XY, UK 11 Neurogenetics Laboratory, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, SA 5006, Australia 12 Hunter Genetics and University of Newcastle, Newcastle, NSW 2300, Australia 13 Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC 29646, USA 14 Department of Pediatrics, Ullevål University Hospital, NO-0407 Oslo, Norway |
| 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. |
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