Autosomal recesive deafness 12
Autosomal recesive deafness type 12 is caused by mutations of the CDH23 gene and modified by mutations of the ATP2B2 gene.
Bork JM et. al. (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.[^]
Wagatsuma M et. al. (2007) Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.[^]
Schwander M et. al. (2009) A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.[^]
Schultz JM et. al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.[^]
Chaib H et. al. (1996) Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.[^]