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

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...

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Detalles Bibliográficos
Autores principales: James, D, Subramanian, L, Selina, A, Palocaren, T, Madhuri, V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Malaysian Orthopaedic Association 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388809/
https://www.ncbi.nlm.nih.gov/pubmed/35992980
http://dx.doi.org/10.5704/MOJ.2207.021
Descripción
Sumario: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.

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