{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:27:09Z","timestamp":1777660029174,"version":"3.51.4"},"reference-count":0,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2009,2,1]],"date-time":"2009-02-01T00:00:00Z","timestamp":1233446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2009,2,1]]},"abstract":"<jats:p>\n                    Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder, is caused mainly by\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    mutations in the methyl-CpG-binding protein 2 gene (MECP2). Although more than 200 different\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients. A rapid and efficient screening strategy for these mutations can be used as a preliminary step for genetic diagnosis of RTT. The current protocols used for this purpose are of high cost and require special equipment. We have designed a simpler multiplex amplification refractory mutation system (ARMS)-PCR strategy that allows identification of these common\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    mutant alleles in four PCR reactions. The assay was tested in 14 RTT patients who were previously genotyped using PCR-restriction fragment length polymorphism and DNA sequencing. A complete concordance was observed between the results of the two methods. The multiplex ARMS-PCR does not require any special equipment, and it provides rapid, reproducible, and cost-effective detection of common\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    mutations. The assay can be carried out efficiently in a standard molecular genetics laboratory and suitable as a preliminary screen for all patients with RTT diagnosis.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2008.0051","type":"journal-article","created":{"date-parts":[[2009,2,25]],"date-time":"2009-02-25T08:02:08Z","timestamp":1235548928000},"page":"19-22","source":"Crossref","is-referenced-by-count":1,"title":["A Multiplexed ARMS-PCR Approach for the Detection of Common\n                    <i>MECP2<\/i>\n                    Mutations"],"prefix":"10.1177","volume":"13","author":[{"given":"Ibrahim","family":"Baris","sequence":"first","affiliation":[{"name":"Bogazici University","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra","family":"Battaloglu","sequence":"additional","affiliation":[{"name":"Bogazici University","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2009,2,9]]},"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2008.0051","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2008.0051","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:19Z","timestamp":1777447279000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gtmb.2008.0051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,2,1]]}},"alternative-id":["10.1089\/gtmb.2008.0051"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2008.0051","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,1]]}}}