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Article

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Nature genetics - 1 Sept 2000

Verpy E, Leibovici M, Zwaenepoel I, Liu X Z, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats B J, Slim R, Petit C

Abstract excerpt

Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction and blindness (due to progressive retinitis pigmentosa)1. Six different USH1 loci have been reported. So far, only MYO7A (USH1B), encoding myosin VIIA...

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PMID: 10973247
DOI: 10.1038/79171

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10973247-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.PMID 10973247Read ↗

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Expression and subcellular localization of <i>USH1C</i> /harmonin in the human retina provide insights into pathomechanisms and therapySemantic proximity Read ↗

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Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cellsSemantic proximity Read ↗

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