Non-syndromic, autosomal-recessive deafness

• Published in: Clinical genetics Vol. 69; no. 5; pp. 371 - 392
• Main Authors: Petersen, MB, Willems, PJ
• Format: Journal Article
• Language: English
• Published: Oxford, UK; Malden, USA Blackwell Publishing Ltd 01.05.2006; Blackwell
• Subjects: Adaptor Proteins, Signal Transducing - genetics; autosomal recessive; Biological and medical sciences; Collagen - genetics; Connexin 26; Connexins - genetics; deafness; Deafness - diagnosis; Deafness - epidemiology; Deafness - genetics; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; General aspects. Genetic counseling; genes; Genes, Recessive; Humans; Medical genetics; Medical sciences; Membrane Proteins - genetics; Microfilament Proteins - genetics; Mutation; Non tumoral diseases; non-syndromic; Otorhinolaryngology. Stomatology; Proteins - genetics; Human; genes; Auditory disorder; Genetic disease; Hearing loss; Gene; Autosomal character; non-syndromic; ENT disease; Recessive character; Genetics; deafness; autosomal recessive
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.2006.00613.x

Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Autosomal‐recessive genes are responsible for about 80% of the cases of hereditary non‐syndromic deafness of pre‐lingual onset with 23 different genes identified to date. In the present article, we review these 23 genes, their function, and their contribution to genetic deafness in different populations. The wide range of functions of these DFNB genes reflects the heterogeneity of the genes involved in hearing and hearing loss. Several of these genes are involved in both recessive and dominant deafness, or in both non‐syndromic and syndromic deafness. Mutations in the GJB2 gene encoding connexin 26 are responsible for as much as 50% of pre‐lingual, recessive deafness. By contrast, mutations in most of the other DFNB genes have so far been detected in only a small number of families, and their contribution to deafness on a population scale might therefore be limited. Identification of all genes involved in hereditary hearing loss will help in our understanding of the basic mechanisms underlying normal hearing, in early diagnosis and therapy.