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A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Khayat, Wujood; Hackett, Anna; Shaw, Marie; Ilie, Alina; Dudding-Byth, Tracy; Kalscheuer, Vera M; Christie, Louise; Corbett, Mark A; Juusola, Jane; Friend, Kathryn L; Kirmse, Brian M; Gecz, Jozef; Field, Michael; Orlowski, John.
Affiliation
  • Khayat W; Department of Physiology, McGill University, Montreal, Quebec, Canada.
  • Hackett A; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
  • Shaw M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
  • Ilie A; Department of Physiology, McGill University, Montreal, Quebec, Canada.
  • Dudding-Byth T; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
  • Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Christie L; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
  • Corbett MA; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
  • Juusola J; GeneDx, Gaithersburg, MD, USA.
  • Friend KL; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Kirmse BM; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, MS, USA.
  • Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
  • Field M; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
  • Orlowski J; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
Hum Mol Genet ; 28(4): 598-614, 2019 02 15.
Article in En | MEDLINE | ID: mdl-30335141
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sodium-Hydrogen Exchangers / Genetic Diseases, X-Linked / Golgi Apparatus / Intellectual Disability Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Canada
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sodium-Hydrogen Exchangers / Genetic Diseases, X-Linked / Golgi Apparatus / Intellectual Disability Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Canada