Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal recessive deafness 23

Autosomal recessive deafness 23 is caused by mutations of the PCDH15 gene.

Systematic

Hereditary deafness
Alport Syndrome
Autosomal recesive deafness 12
Autosomal recessive deafness 23
PCDH15
Autosomal recessive deafness 4 with enlarged vestibular aqueduct
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.

Ahmed ZM et al. (2003) PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

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2.

Doucette L et al. (2009) Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

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3.

OMIM.ORG article

Omim 609533 [^]
Update: April 29, 2019