High prevalences of carriers of the 35delG mutation of connexin 26 in the Mediterranean area.

Original article


Lucotte G.

Center of Molecular Neurogenetics, 44 rue Monge, 75005 Paris, France. lucotte@hotmail.com

Int J Pediatr Otorhinolaryngol. 2007 May;71(5):741-6.


OBJECTIVE: Mutation 35delG in the connexin 26 gene is the main cause of recessive deafness in Europe. The prevalence of carriers varies, with a mean value proportion of 1/31 in Mediterranean countries. The aim of this study is to determinate the percentage of carriers in seven populations of the Mediterranean area and to compare prevalence of the mutation in seventeen other published populations in the same area. METHODS: This study has been carried out on the genomic DNAs out of a total of 886 healthy subjects, originating from Sevilla (Spain), Genoa, Sicily (Italy), Alexandria (Egypt), Libya, Algier (Algeria) and Tangier (Morocco), genotyped by Taqman assay. RESULTS: The approximate proportions of the 35delG mutation are <1/149 in Sevilla, 1/129 in Genoa, 1/34 in Sicily, 1/54 in Alexandria, 1/41 in Libya, 1/141 in Algier and 1/123 in Tangier. When compared to other Mediterranean populations, the mean prevalence of the mutation is 1/49. One of the most elevated values of 35delG prevalence corresponds to Greece (1/28); the pattern of various 35delG prevalences is interpretated in the present meta-analysis as the result of Ancient Greek colonizations of the "Magna Grecia" in historical times. Keywords: Recessive deafness; Connexin 26; 35delG mutation; Prevalence of carriers; Mediterranean area; “Magna Grecia”; Historico-geographical interpretation Link/DOI: http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T7V-4N3GNK2-2&_user=10&_coverDate=05%2F31%2F2007&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=486c4e9a54fad24439f7abd999833f5a