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Article

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.

Journal of human genetics - 1 Oct 2012

Jaworek Thomas J, Bhatti Rashid, Latief Noreen, Khan Shaheen N, Riazuddin Saima, Ahmed Zubair M

Abstract excerpt

We ascertained two large Pakistani consanguineous families (PKDF231 and PKDF608) segregating profound hearing loss, vestibular dysfunction, and retinitis pigmentosa; the defining features of Usher syndrome type 1 (USH1). To date, seven USH1 loci have been reported. Here, we map a novel locus, USH1K, on chromosome 10p11.21-q21.1. In family PKDF231, we performed a genome-wide linkage screen and found a region of...

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Source

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Identifiers

PMID: 22718019
DOI: 10.1038/jhg.2012.79
PMCID: PMC3596105

Genes

FZD4
GJD4
PCDH15
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.PMID 22718019Read ↗

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