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Article

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Human mutation - 1 Jun 2007

Ebermann Inga, Walger Martin, Scholl Hendrik P N, Charbel Issa Peter, Lüke Christoph, Nürnberg Gudrun, Lang-Roth Ruth, Becker Christian, Nürnberg Peter, Bolz Hanno J

Abstract excerpt

We have identified a consanguineous family from Morocco segregating autosomal recessive congenital progressive hearing loss (ARNSHL) and retinal degeneration. Detailed clinical investigation of the six siblings revealed combined severe cone-rod dystrophy (CORD) and severe/profound hearing impairment in two of them, while there is isolated CORD in three and nonsyndromic profound hearing loss in one. We therefore...

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Source

Identifiers

PMID: 17301963
DOI: 10.1002/humu.20478

Genes

MERTK
OTOF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.PMID 17301963Read ↗

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