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Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.

ABSTRACT: We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant caused a severe recessive form of metatropic dysplasia.

SUBMITTER: James D 

PROVIDER: S-EPMC9388809 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.

James D D   Subramanian L L   Selina A A   Palocaren T T   Madhuri V V  

Malaysian orthopaedic journal 20220701 2

We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant caused a severe recessive form of metatropic dysplasia. ...[more]

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