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

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

doi:10.5704/MOJ.2207.021

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

Malays Orthop J. 2022 Jul;16(2):145-149. doi: 10.5704/MOJ.2207.021.

Authors

D James¹, L Subramanian^{1

2}, A Selina^{1

2}, T Palocaren¹, V Madhuri^{1

2}

Affiliations

¹ Department of Paediatric Orthopaedics, Christian Medical College, Vellore, India.
² Centre for Stem cell Research, Christian Medical College, Vellore, India.

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.

Keywords: Metatropic dysplasia; homozygous TRPV4 gene variant; severe autosomal recessive form; severe dwarfism.

Publication types

Case Reports