{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T16:56:39Z","timestamp":1789059399455,"version":"build-2803163510"},"reference-count":24,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,1]]},"abstract":"\n Background:<\/jats:title>\n \n Rett syndrome (RTT) is a rare neurological disorder that primarily affects the females. Most cases of RTT are caused by a\n de novo<\/jats:italic>\n mutation in the\n MECP2<\/jats:italic>\n gene located on the X chromosome. About 1000\n MECP2<\/jats:italic>\n mutations have been found to be associated with RTT.\n <\/jats:p>\n <\/jats:sec>\n \n Objective:<\/jats:title>\n \n The present study is aimed at the mutation screening of\n MECP2<\/jats:italic>\n gene in the RTT patients belonging to the south Indian state of Kerala.\n <\/jats:p>\n <\/jats:sec>\n \n Materials and Methods:<\/jats:title>\n \n In total 22 girls with a clinical suspicion of RTT were recruited for the study. Exons 2, 3, and 4 of\n MECP2<\/jats:italic>\n were amplified and sequenced.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n MECP2<\/jats:italic>\n mutations were observed in 12 patients. While 7 mutations were pathogenic, 4 were benign. All of the mutations were located in exons 3 and 4 of\n MECP2<\/jats:italic>\n , spanning the methyl-CpG DNA binding domain (MBD), transcription repression domain (TRD), and C-terminal domain (CTD) domains of the MECP2 protein. Four novel mutations were identified. There were no mutations in the\n MECP2<\/jats:italic>\n gene of 10 patients with a clinical suspicion of RTT.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n \n A recommended screening strategy for RTT is to first look for mutations in exons 3 and 4 of\n MECP2<\/jats:italic>\n , followed by exons 1 and 2, testing for large deletions in\n MECP2<\/jats:italic>\n , and screening for mutations in genes, such as\n CDKL5<\/jats:italic>\n and\n FOXG1<\/jats:italic>\n that are reported to cause a Rett-like phenotype.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/0028-3886.338714","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T00:38:10Z","timestamp":1708475890000},"page":"249-253","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["MECP2 Mutations in the Rett Syndrome Patients from South India"],"prefix":"10.4103","volume":"70","author":[{"given":"Ayyappan","family":"Anitha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh A","family":"Poovathinal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijitha","family":"Viswambharan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Thanseem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Iype","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U","family":"Anoop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P S","family":"Sumitha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahna","family":"Parakkal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahesh M","family":"Vasu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-47-20240907","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ana.410140412","article-title":"A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases","volume":"14","author":"Hagberg","year":"1983","journal-title":"Ann Neurol"},{"key":"R2-47-20240907","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1136\/jmg.33.9.764","article-title":"Rett syndrome, classical and atypical: Genealogical support for common origin","volume":"33","author":"Akesson","year":"1996","journal-title":"J Med 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