Literature DB >> 35992980

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

D James1, L Subramanian1,2, A Selina1,2, T Palocaren1, V Madhuri1,2.   

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.
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Entities:  

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

Year:  2022        PMID： 35992980      PMCID： PMC9388809          DOI： 10.5704/MOJ.2207.021

Source DB:  PubMed          Journal:  Malays Orthop J        ISSN： 1985-2533


  4 in total

1.  Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history.

Authors:  Peter Kannu; Salim Aftimos; Val Mayne; Leo Donnan; Ravi Savarirayan
Journal:  Am J Med Genet A       Date:  2007-11-01       Impact factor: 2.802

Review 2.  The vanilloid transient receptor potential channel TRPV4: from structure to disease.

Authors:  Wouter Everaerts; Bernd Nilius; Grzegorz Owsianik
Journal:  Prog Biophys Mol Biol       Date:  2009-10-14       Impact factor: 3.667

3.  Metatropic dysplasia lethal variants.

Authors:  Christine M Hall; Nursel H Elçioglu
Journal:  Pediatr Radiol       Date:  2003-10-18

4.  Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Authors:  Jose Velilla; Michael Mario Marchetti; Agnes Toth-Petroczy; Claire Grosgogeat; Alexis H Bennett; Nikkola Carmichael; Elicia Estrella; Basil T Darras; Natasha Y Frank; Joel Krier; Rachelle Gaudet; Vandana A Gupta
Journal:  Neurol Genet       Date:  2019-03-07
  4 in total

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