Autosomal recessive nonsyndromic deafness genes: a review

作者：Duman Duygu; Tekin Mustafa^*

来源：Frontiers in Bioscience, 2012, 17: 2213-2236.

DOI：10.2741/4046

• Consanguinity
• Deafness
• Founder effects
• Gene
• Inner ear
• Non syndromic hearing loss
• Recurrent mutations
• Allelic heterogeneity
• Review

More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93 percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be recognized by their associated syndromic features, but in most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL). Reported mutations in GJB2, encoding connexin 26, makes this gene the most common cause of hearing loss in many populations. Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3. In this report we summarize genes and mutations reported in families with ARNSHL. Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of genes and mutations in each population.

• 出版日期2012-6-1