Article
A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.
Human molecular genetics - 15 Jul 2026
Teng Congcong, He Ming, Zhang Chao, Yang Juhua, Jiang Tao, Yang Yuecheng, Zhou Xiaoyan, Feng Na, Cai Xilun, Ni Junxue, Shi Hong, Zhang Jie
Abstract excerpt
Spondylometaphyseal dysplasia, Kozlowski type (SMDK), is an autosomal dominant skeletal disorder characterized by abnormalities of the spine, metaphyses and epiphyses. It is associated with variants in TRPV4, although the underlying molecular mechanisms remain unclear. A de novo heterozygous TRPV4 variant (c.2479C>G, p.Pro827Ala) was detected in a patient with SMDK by whole-exome sequencing, and transcriptome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.