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Article

Compound Heterozygous PCDH15 Variants Associated With Cone-Rod Dystrophy in a Chinese Pedigree.

Molecular genetics & genomic medicine - 1 Sept 2026

Zhang Lei, Wang Qianfeng, Wang Haiyan, Jia Wei, Zhang Bowen, Wang Ru, Qiang Wei, Bai Shuwei

Abstract excerpt

BACKGROUND: This study aimed to characterize the clinical and genetic features of a Chinese family with cone-rod dystrophy in which compound heterozygous PCDH15 variants were identified. METHODS: A Chinese pedigree with autosomal recessive cone-rod dystrophy was investigated. A comprehensive ophthalmic assessment was performed in the proband, a 42-year-old woman, together with genetic evaluation of her family...

Read the complete abstract on PubMed

Topics

Adult
Female
Humans
Male
Cadherin Related Proteins
Cadherins
Cone-Rod Dystrophies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Heterozygote

Mutation

Pedigree

East Asian People

China

Source

Open in PubMed Open full text

Identifiers

PMID: 42723338
DOI: 10.1002/mgg3.70298
PMCID: PMC13562908

Genes

PCDH15

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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