A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

摘要

Hearing loss is one of the most common sensory disorders in humans. One in 1,000 children is affected by severe to profound hearing impairment at birth. It is estimated that more than 50% of pre-lingual hearing loss is attributed to genetic alterations [Gorlin et al., 19951. Approximately 80% of prelingual genetic forms are autosomal recessive nonsyndromic hearing loss (ARNSHL) [Morton, 1991]. Identification of novel DFNB loci was facilitated by the analysis of large, consanguineous families living in geographically isolated areas. To date, more than 70 DFNB loci for ARNSHL and mutations in over 20 genes have been identified (Hereditary Hearing Loss Homepage: http://webhost.ua.ac.be/hhh/).