{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,3]],"date-time":"2025-08-03T04:21:25Z","timestamp":1754194885426},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,2,11]],"date-time":"2013-02-11T00:00:00Z","timestamp":1360540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:p>Rett syndrome (RTT) is an X\u2010linked postnatal neurological disorder, primarily affecting females and characterized by regression, epilepsy, stereotypical hand movements, and motor abnormalities. Its prevalence is about 1 in 10,000 female births. RTT is caused by mutations within methyl CpG\u2010binding protein 2 (<jats:italic>MECP2<\/jats:italic>) gene. Over 200 individual nucleotide changes in the gene, which cause pathogenic mutations, have been reported; however, eight most commonly occurring missense and nonsense mutations account for almost 70% of all mutations. RTT cases have also been reported from India. The phenotype (classical and atypical inclusive) has many differentials. However, a genetically based confirmed diagnosis would help in management and counseling. In this pilot study we have analyzed <jats:italic>MECP2<\/jats:italic> mutations in ten Indian sporadic patients diagnosed clinically as having RTT. Two mutations and one novel variant in <jats:italic>MECP2<\/jats:italic> have been detected. Missense mutations p.R133C and c.806delG have been detected. The missence mutation p.R133C was the part of eight hotspots reported in Rett patients. This patient met all the essential criteria except delayed onset of regression. The other c.806delG mutation positive patient also fulfilled all the obligatory criteria of classical RTT. Another clinically atypical Rett patient showed a novel mutation p.C339S in <jats:italic>MECP2<\/jats:italic> gene. The preliminary result necessitates a large\u2010scale study of RTT patients to determine more precisely the influence of <jats:italic>MECP2<\/jats:italic> mutations in Indian patients and their correlation with clinical phenotypes. J. Clin. Lab. Anal. 27:137\u2013142, 2013. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/jcla.21574","type":"journal-article","created":{"date-parts":[[2013,2,11]],"date-time":"2013-02-11T17:18:57Z","timestamp":1360603137000},"page":"137-142","source":"Crossref","is-referenced-by-count":2,"title":["<scp>M<\/scp>utational <scp>A<\/scp>nalysis of <scp>M<\/scp>ethyl\u2010<scp>C<\/scp>p<scp>G B<\/scp>inding <scp>P<\/scp>rotein 2 (<i><scp>MECP<\/scp>2<\/i>) <scp>G<\/scp>ene in <scp>I<\/scp>ndian <scp>C<\/scp>ases of <scp>R<\/scp>ett <scp>S<\/scp>yndrome"],"prefix":"10.1002","volume":"27","author":[{"given":"Dhanjit Kumar","family":"Das","sequence":"first","affiliation":[{"name":"Genetic Research Centre National Institute for Research in Reproductive Heatlh  Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vrajesh","family":"Udani","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Hinduja National Hospital and Research Centre  Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daksha","family":"Sanghavi","sequence":"additional","affiliation":[{"name":"Genetic Research Centre National Institute for Research in Reproductive Heatlh  Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashmi","family":"Adhia","sequence":"additional","affiliation":[{"name":"Genetic Research Centre National Institute for Research in Reproductive Heatlh  Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anurupa","family":"Maitra","sequence":"additional","affiliation":[{"name":"Molecular Endocrinology Department National Institute for Research in Reproductive Heatlh  Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.10.037"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00083-6"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.06.003"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.04.003"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201580"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810378535"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31222"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2002.0612"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2008.0051"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000165342"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.8.608"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.e52"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807307091"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026237"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/426462"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201429"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcla.21574","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.21574","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T15:43:44Z","timestamp":1696347824000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.21574"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,11]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1002\/jcla.21574"],"URL":"https:\/\/doi.org\/10.1002\/jcla.21574","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,11]]}}}