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Article

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

European journal of human genetics : EJHG - 1 May 2009

Doucette Lance, Merner Nancy D, Cooke Sandra, Ives Elizabeth, Galutira Dante, Walsh Vanessa, Walsh Tom, MacLaren Linda, Cater Tracey, Fernandez Bridget, Green Jane S, Wilcox Edward R, Shotland Lawrence I, Shotland Larry, Li Xiaoyan Cindy, Li X C, Lee Ming, King Mary-Claire, Young Terry-Lynn

Abstract excerpt

We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, profound, nonsyndromic sensorineural hearing loss. A genome-wide scan mapped the deafness trait to 10q21-22 (max LOD score of 4.0; D10S196) and fine mapping revealed a 16...

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Identifiers

PMID: 19107147
DOI: 10.1038/ejhg.2008.231
PMCID: PMC2986256

Genes

PCDH15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19107147-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.PMID 19107147Read ↗

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15Semantic proximity Read ↗

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