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
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author James, D
Subramanian, L
Selina, A
Palocaren, T
Madhuri, V
author_facet James, D
Subramanian, L
Selina, A
Palocaren, T
Madhuri, V
author_sort James, D
collection PubMed
description 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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spelling pubmed-93888092022-08-20 Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report James, D Subramanian, L Selina, A Palocaren, T Madhuri, V Malays Orthop J Case Reports 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. Malaysian Orthopaedic Association 2022-07 /pmc/articles/PMC9388809/ /pubmed/35992980 http://dx.doi.org/10.5704/MOJ.2207.021 Text en © 2020 Malaysian Orthopaedic Association (MOA). All Rights Reserved https://creativecommons.org/licenses/by/3.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
spellingShingle Case Reports
James, D
Subramanian, L
Selina, A
Palocaren, T
Madhuri, V
Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
title Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
title_full Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
title_fullStr Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
title_full_unstemmed Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
title_short Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
title_sort novel trpv4 pathogenic variant in severe metatropic skeletal dysplasia: a case report
topic Case Reports
url 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
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