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Article

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.

Clinical genetics - 1 Apr 2026

Dong Lina, Ho Kwan Chun, Tan Zhijia, He Yanni, Zhou Yapeng, Yin Shijie, Feng Lin, Wong Janus Siu Him, Tsun To Michael Kai

Abstract excerpt

Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease. However, the full spectrum of TRPV4-related phenotypes remains incompletely defined. This study systematically reviewed the clinical and genetic features of 10 Chinese patients harboring various TRPV4 variants. In the cohort, six...

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Identifiers

PMID: 41263626
DOI: 10.1111/cge.70103
PMCID: PMC12958006

Genes

TRPV4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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