Article
Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus.
Genetic testing and molecular biomarkers - 1 Feb 2009
Belguith Hanen, Aifa-Hmani Mounira, Dhouib Houria, Said Mariem Ben, Mosrati Mohamed Ali, Lahmar Imed, Moalla Jihen, Charfeddine Ilhem, Driss Nabil, Arab Saida Ben, Ghorbel Abdelmonem, Ayadi Hammadi, Masmoudi Saber
Abstract excerpt
Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans (DFNB3) and in the shaker-2 mouse. Human MYO15A has 66 exons and encodes unconventional myosin XVA. Analysis of 77 Tunisian consanguineous families segregating recessive deafness revealed evidence of linkage to microsatellite markers for DFNB3 in four families. In two families, sequencing of MYO15A led to the identification...
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