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Article

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

American journal of human genetics - 1 Jul 2001

Ahmed Z M, Riazuddin S, Bernstein S L, Ahmed Z, Khan S, Griffith A J, Morell R J, Friedman T B, Riazuddin S, Wilcox E R

Abstract excerpt

Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction. Here we report two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F. A Northern blot probed with the PCDH15...

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Source

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Identifiers

PMID: 11398101
DOI: 10.1086/321277
PMCID: PMC1226045

Genes

PCDH15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.PMID 11398101Read ↗

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