Analysis Of The Candidate Genes In An Autosomal Recessive Nonsyndromic Hearing Impairment Kindred

Hereditary hearing impairment is a complex disease with high incidence. The most useful distinction for it is syndromic versus nonsyndromic. Syndromic hearing impairment (SHI) is associated with other clinical symptoms, while nonsyndromic hearing impairment patients have no consistent phenotypic manifestations other than hearing impairment.Nonsyndromic hearing impairment is highly genetic heterogenous. Its inheritance pattern involves autosomal dominant, autosomal recessive, X-linked and mitochondrial inheritance. Even for the same inheritance pattern, many different loci may be involved. Autosomal recessive NSHI is the major cause of hereditary hearing impairment, and it usually leads to prelingual deafness that impedes speech acquisition. Therefore, researchers have focused on autosomal recessive forms of nonsyndromic hearing impairment.Identifying disease genes responsible for NSHI is very important for its pathogenesis and effective preventions. To date, 130 NSHI loci have been defined and 43 genes have been identified, of which 22 genes for autosomal recessive NSHI.