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Article

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss.

Molecular genetics & genomic medicine - 1 Jul 2023

Yang Ziying, Huang Minhong, Wei Xiuxiu, Sun Jun, Zhang Fuping

Abstract excerpt

BACKGROUND: Usher syndrome is a condition characterized by partial or total hearing loss and progressive pigmentary retinopathy. Usher syndrome type 1F is caused by biallelic loss-of-function variants in Protocadherin 15 (PCDH15), which encodes the PCDH15 protein that plays an important role in the morphogenesis and cohesion of stereocilium bundles and retinal photoreceptor cell maintenance and function. METHODS:...

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Identifiers

PMID: 37232061
DOI: 10.1002/mgg3.2193
PMCID: PMC10337273

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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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