Article
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.
Genetic testing and molecular biomarkers - 1 Jun 2010
Ben Saïd Mariem, Hmani-Aifa Mounira, Amar Imen, Baig Shahid Mahmood, Mustapha Mirna, Delmaghani Sedigheh, Tlili Abdelaziz, Ghorbel Abdelmonem, Ayadi Hammadi, Van Camp Guy, Smith Richard J H, Tekin Mustafa, Masmoudi Saber
Abstract excerpt
Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34X mutation is the most frequent known mutation in the TMC1 gene. To study the origin of this mutation and determine whether it arose in a common ancestor, we analyzed...
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