USH1D

USH1D

Abbreviation for:
Usher syndrome type 1D (see there)
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References in periodicals archive ?
Lack of function within the cochlear hair cells leads to development of deafness.12 Similarly, CDH23, (OMIM: 605516) gene encoding Cadherin-23 showed mutation in both NSHL (DFNB12) and Usher syndrome type ID (USH1D).13 CDH23 contain 69 exons and codes 3,354-amino-acid protein comprising 27 cadherin extracellular (EC) repeats, a transmembrane domain and a unique cytoplasmic domain.
Mutations in CDH23 are the pathogenic cause for both Usher syndrome 1D (USH1D) and autosomal recessive nonsyndromic hearing loss (DFNB12).
Autosomal recessive non syndromic DFNB12 is responsible for 5% isolated hearing impairment and 10% of USH1D is also prevalent in Pakistani deaf families (Astuto et al., 2002).