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.
For most prevalent loci (DFNB1, DFNB2, DFNB3, DFNB4,
DFNB12 and DFNB39) in Pakistani population exclusion analysis was performed.
Riazuddin et al., "Usher syndrome 1D and nonsyndromic autosomal recessive deafness
DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23," The American Journal of Human Genetics, vol.
Mutations in CDH23 are the pathogenic cause for both Usher syndrome 1D (USH1D) and autosomal recessive nonsyndromic hearing loss (
DFNB12).