Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Systematic

Hereditary deafness
Alport Syndrome
Autosomal recesive deafness 12
ATP2B2
CDH23
Autosomal recessive deafness 23
Autosomal recessive deafness 4 with enlarged vestibular aqueduct
Hereditary deafness 97
IVIC syndrome
MYH9 related disorders
Stapes ankylosis with broad thumbs and toes
Usher syndrome
X-linked non-syndromic sensorineural deafness type DFN

References:

1.

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.

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2.

Wagatsuma M et. al. (2007) Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

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3.

Schwander M et. al. (2009) A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

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4.

Schultz JM et. al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

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5.

Chaib H et. al. (1996) Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

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Update: Sept. 26, 2018