{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:05:57Z","timestamp":1791198357469,"version":"4.1.0"},"reference-count":23,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[1999,7,5]]},"published-print":{"date-parts":[[1999,10,1]]},"abstract":"<jats:p>To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males included profound mental retardation (100%), mutism despite apparently normal hearing (100%), grand mal epilepsy (87.5%), and limited life expectancy (68.8%). Of the four affected males examined, all had mild craniofacial dysmorphology and three were noted to have bilateral ophthalmoplegia and truncal ataxia. Three of 10 obligate female carriers had mild mental retardation. Cerebellar and brain stem atrophy was shown by cranial imaging and postmortem examination. Linkage analysis shows the gene to be located between markers DXS424 (Xq24) and DXS548 (Xq27.3), with a maximum two point lod score of 3.10.<\/jats:p>","DOI":"10.1136\/jmg.36.10.759","type":"journal-article","created":{"date-parts":[[2013,2,15]],"date-time":"2013-02-15T13:28:56Z","timestamp":1360934936000},"page":"759-766","source":"Crossref","is-referenced-by-count":116,"title":["X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27"],"prefix":"10.1136","volume":"36","author":[{"given":"Arnold L","family":"Christianson","sequence":"first","affiliation":[{"name":"aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, \n\nbJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, \n\ncDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\ndDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\neGenetic Services Division, Gauteng Department of H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E","family":"Stevenson","sequence":"additional","affiliation":[{"name":"aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, \n\nbJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, \n\ncDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\ndDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\neGenetic Services Division, Gauteng Department of H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C H","family":"van der Meyden","sequence":"additional","affiliation":[{"name":"aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, \n\nbJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, \n\ncDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\ndDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\neGenetic Services Division, Gauteng Department of H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Pelser","sequence":"additional","affiliation":[{"name":"aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, \n\nbJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, \n\ncDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\ndDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\neGenetic Services Division, Gauteng Department of H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois W","family":"Theron","sequence":"additional","affiliation":[{"name":"aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, \n\nbJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, \n\ncDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\ndDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\neGenetic Services Division, Gauteng Department of H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petro L","family":"van Rensburg","sequence":"additional","affiliation":[{"name":"aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, \n\nbJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, \n\ncDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\ndDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\neGenetic Services Division, Gauteng Department of H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Chandler","sequence":"additional","affiliation":[{"name":"aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, \n\nbJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, \n\ncDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\ndDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\neGenetic Services Division, Gauteng Department of H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E","family":"Schwartz","sequence":"additional","affiliation":[{"name":"aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, \n\nbJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, \n\ncDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\ndDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, \n\neGenetic Services Division, Gauteng Department of H"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1999,10,1]]},"reference":[{"key":"2025101713080088000_36.10.759.1","unstructured":"Penrose LS (1938) A clinical and genetic study of 1280 cases of mental defect (The Colchester Survey). (Medical Research Council Special Report Series, London) :No 229."},{"key":"2025101713080088000_36.10.759.2","first-page":"611","article-title":"A theory of X-linkage of major intellectual traits.","volume":"76","author":"Lehrke","year":"1972","journal-title":"Am J Ment Defic"},{"key":"2025101713080088000_36.10.759.3","doi-asserted-by":"publisher","DOI":"10.1126\/science.877551"},{"key":"2025101713080088000_36.10.759.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380204"},{"key":"2025101713080088000_36.10.759.5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M"},{"key":"2025101713080088000_36.10.759.6","unstructured":"Lubs H, Chiurazzi P, Arena J, Schwartz C, Tranebjaerg L, Neri G. XLMR genes: updated 1998. Am J Med Genet(in press)."},{"key":"2025101713080088000_36.10.759.7","first-page":"454","article-title":"Allan-Herndon syndrome II. Linkage to DNA markers in Xq21.","volume":"47","author":"Schwartz","year":"1990","journal-title":"Am J Hum Genet"},{"key":"2025101713080088000_36.10.759.8","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1159\/000134135","article-title":"Report of the Sixth International Workshop on X Chromosome Mapping 1995.","volume":"71","author":"Nelson","year":"1995","journal-title":"Cytogenet Cell Genet"},{"key":"2025101713080088000_36.10.759.9","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370030105"},{"key":"2025101713080088000_36.10.759.10","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.","volume":"51","author":"Allen","year":"1992","journal-title":"J Hum Genet"},{"key":"2025101713080088000_36.10.759.11","first-page":"989","article-title":"Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.","volume":"54","author":"Pegoraro","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025101713080088000_36.10.759.12","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.5694\/j.1326-5377.1971.tb88099.x","article-title":"Recurrence risk of metal retardation in sibs.","volume":"1","author":"Turner","year":"1971","journal-title":"Med J Aust"},{"key":"2025101713080088000_36.10.759.13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.6.361"},{"key":"2025101713080088000_36.10.759.14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430172"},{"key":"2025101713080088000_36.10.759.15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450527"},{"key":"2025101713080088000_36.10.759.16","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050250"},{"key":"2025101713080088000_36.10.759.17","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q"},{"key":"2025101713080088000_36.10.759.18","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<63::AID-AJMG9>3.0.CO;2-S"},{"key":"2025101713080088000_36.10.759.19","first-page":"1096","article-title":"The gene for hereditary bullous dystrophy, X linked macular type, maps to the Xq27.3-qter region.","volume":"55","author":"Ropers","year":"1995","journal-title":"Am J Med Genet"},{"key":"2025101713080088000_36.10.759.20","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170125"},{"key":"2025101713080088000_36.10.759.21","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.2.477"},{"key":"2025101713080088000_36.10.759.22","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1172\/JCI112795","article-title":"Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.","volume":"79","author":"Silver","year":"1987","journal-title":"J Clin Invest"},{"key":"2025101713080088000_36.10.759.23","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-241"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.36.10.759","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:08:08Z","timestamp":1760731688000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.36.10.759"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,10,1]]},"references-count":23,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1999,10,1]]},"published-print":{"date-parts":[[1999,10,1]]}},"alternative-id":["10.1136\/jmg.36.10.759"],"URL":"https:\/\/doi.org\/10.1136\/jmg.36.10.759","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,10,1]]}}}