{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:55:49Z","timestamp":1790394949289,"version":"4.1.0"},"reference-count":0,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2008,12,1]],"date-time":"2008-12-01T00:00:00Z","timestamp":1228089600000},"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"],"published-print":{"date-parts":[[2008,12,1]]},"abstract":"\n Mutations in the Connexin 26 gene (\n GJB2<\/jats:italic>\n \/\n Cx26<\/jats:italic>\n ) are responsible for more than half of all cases of prelingual nonsyndromic recessive deafness in Caucasians. The carrier frequency of the 35delG-\n GJB2<\/jats:italic>\n mutation was found to be as high as 2\u20134% in the Mediterranean populations. Different\n GJB2<\/jats:italic>\n mutations were reported in the Moroccan patients with autosomal recessive nonsyndromic hearing loss; however, rare studies were carried out on the carrier frequencies of these mutations in the healthy populations. The aim of this study was to estimate the carrier frequencies of the\n GJB2<\/jats:italic>\n mutations in the Moroccan population. The molecular analysis of the 35delG mutation and other\n GJB2<\/jats:italic>\n sequence variations was performed in 386 healthy unrelated Moroccan individuals with no known hearing loss. Five\n GJB2<\/jats:italic>\n sequence variations at heterozygous state were found: two mutations, 35delG and 109G\u2009>\u2009A (V37I), and three polymorphisms, 79G\u2009>\u2009A (V27I), 341G\u2009>\u2009A (E114G), and 457G\u2009>\u2009A (V153I). The carrier frequency of the 35delG mutation was the highest with 2.07% [95% confidence interval (0.90\u20134.04%)], followed by that of the V37I mutation with 1.43% (0.06\u20135.39). The carrier frequency of V27I, E114G, and V153I changes was estimated to be 0.71% (0.01\u20134.34). This finding shows that the 35delG carrier frequency found here is similar to the one observed in Mediterranean populations. It provides new information about\n GJB2<\/jats:italic>\n carrier rates facilitating the diagnosis and the genetic counseling in the Moroccan population.\n <\/jats:p>","DOI":"10.1089\/gte.2008.0063","type":"journal-article","created":{"date-parts":[[2008,12,15]],"date-time":"2008-12-15T09:06:08Z","timestamp":1229331968000},"page":"569-574","source":"Crossref","is-referenced-by-count":12,"title":["Carrier Frequencies of Mutations\/Polymorphisms in the Connexin 26 Gene (\n GJB2<\/i>\n ) in the Moroccan Population"],"prefix":"10.1177","volume":"12","author":[{"given":"Omar","family":"Abidi","sequence":"first","affiliation":[{"name":"Pasteur Institute","place":["Morocco"]},{"name":"University of Chouaib Doukkali","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Redouane","family":"Boulouiz","sequence":"additional","affiliation":[{"name":"Pasteur Institute","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Halima","family":"Nahili","sequence":"additional","affiliation":[{"name":"Pasteur Institute","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadija","family":"Bakhouch","sequence":"additional","affiliation":[{"name":"Pasteur Institute","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lahcen","family":"Wakrim","sequence":"additional","affiliation":[{"name":"Pasteur Institute","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Rouba","sequence":"additional","affiliation":[{"name":"Pasteur Institute","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelaziz","family":"Chafik","sequence":"additional","affiliation":[{"name":"University of Chouaib Doukkali","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Hassar","sequence":"additional","affiliation":[{"name":"Pasteur Institute","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelhamid","family":"Barakat","sequence":"additional","affiliation":[{"name":"Pasteur Institute","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2008,12,15]]},"container-title":["Genetic Testing"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gte.2008.0063","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gte.2008.0063","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:18Z","timestamp":1777447278000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gte.2008.0063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,1]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,12,1]]}},"alternative-id":["10.1089\/gte.2008.0063"],"URL":"https:\/\/doi.org\/10.1089\/gte.2008.0063","relation":{},"ISSN":["1090-6576","1557-7473"],"issn-type":[{"value":"1090-6576","type":"print"},{"value":"1557-7473","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,1]]}}}