{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T14:13:06Z","timestamp":1791036786970,"version":"4.1.0"},"reference-count":28,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,4,1]]},"abstract":"<jats:p>Rett syndrome (RTT) was first described in 1966. Its biological and genetic foundations were not clear until recently when Amir<jats:italic>et al<\/jats:italic> reported that mutations in the <jats:italic>MECP2<\/jats:italic> gene were detected in around 50% of RTT patients. In this study, we have screened the<jats:italic>MECP2<\/jats:italic> gene for mutations in our RTT material, including nine familial cases (19 Rett girls) and 59 sporadic cases. A total of 27 sporadic RTT patients were found to have mutations in the <jats:italic>MECP2<\/jats:italic> gene, but no mutations were identified in our RTT families. In order to address the possibility of further X chromosomal or autosomal genetic factors in RTT, we evaluated six candidate genes for RTT selected on clinical, pathological, and genetic grounds:<jats:italic>UBE1<\/jats:italic> (human ubiquitin activating enzyme E1, located in chromosome Xp11.23),<jats:italic>UBE2I<\/jats:italic> (ubiquitin conjugating enzyme E2I, homologous to yeast UBC9, chromosome 16p13.3),<jats:italic>GdX<\/jats:italic> (ubiquitin-like protein, chromosome Xq28), <jats:italic>SOX3<\/jats:italic> (SRY related HMG box gene 3, chromosome Xq26-q27),<jats:italic>GABRA3 <\/jats:italic>(\u03b3-aminobutyric acid type A receptor \u03b13 subunit, chromosome Xq28), and<jats:italic>CDR2<\/jats:italic> (cerebellar degeneration related autoantigen 2, chromosome 16p12-p13.1). No mutations were detected in the coding regions of these six genes in 10 affected subjects and, therefore, alterations in the amino acid sequences of the encoded proteins can be excluded as having a causative role in RTT. Furthermore, gene expression of<jats:italic>MECP2<\/jats:italic>, <jats:italic>GdX, GABRA3<\/jats:italic>, and <jats:italic>L1CAM<\/jats:italic>(L1 cell adhesion molecule) was also investigated by in situ hybridisation. No gross differences were observed in neurones of several brain regions between normal controls and Rett patients.<\/jats:p>","DOI":"10.1136\/jmg.37.4.250","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"250-255","source":"Crossref","is-referenced-by-count":87,"title":["Mutation screening in Rett syndrome patients"],"prefix":"10.1136","volume":"37","author":[{"given":"Fengqing","family":"Xiang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Buervenich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Nicolao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark E S","family":"Bailey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Anvret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2000,4,1]]},"reference":[{"key":"2025101714322359000_37.4.250.1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/j.1651-2227.1985.tb10993.x","article-title":"Rett syndrome: prevalence and impact on progressive severe mental retardation in girls.","volume":"74","author":"Hagberg","year":"1985","journal-title":"Acta Paediatr Scand"},{"key":"2025101714322359000_37.4.250.2","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/S0387-7604(87)80065-7","article-title":"Practical and theoretical considerations concerning the genetics of the Rett syndrome.","volume":"9","author":"Wahlstr\u00c3\u00b6m","year":"1987","journal-title":"Brain Dev"},{"key":"2025101714322359000_37.4.250.3","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.1320250506","article-title":"Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence.","volume":"24 (suppl 1)","author":"Hagberg","year":"1986","journal-title":"Am J Med Genet"},{"key":"2025101714322359000_37.4.250.4","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230432"},{"key":"2025101714322359000_37.4.250.5","unstructured":"Hagberg B Anvret M Wahlstr\u00c3\u00b6m J , eds (1993) Rett syndrome - clinical and biological aspects. 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