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Current Issue - July 2022, Volume 16, Issue No. 2

Official Journal of Malaysian Orthopaedic Association and ASEAN Orthopaedic Association

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


  1. Everaerts W, Nilius B, Owsianik G. The vanilloid transient receptor potential channel TRPV4: from structure to disease. Prog Biophys Mol Biol. 2010; 103(1): 2-17. doi: 10.1016/j.pbiomolbio.2009.10.002
  2. Hall CM, El├žioglu NH. Metatropic dysplasia lethal variants. Pediatr Radiol. 2004; 34(1): 66-74. doi: 10.1007/s00247-003-1063- x
  3. Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, et al. Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. Neurol Genet. 2019; 5(2): e312. doi: 10.1212/NXG.0000000000000312
  4. Campeau P, Schlesinger AE. Skeletal Dysplasias. In: Feingold KR, Anawalt B, Boyce A, Chrousos G, de Herder WW, Dhatariya K, et al, Endotext. South Dartmouth (MA):, Inc.; 2000 (accessed on 5 August 2021)
  5. Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R. Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A. 2007; 143A(21): 2512-22. doi: 10.1002/ajmg.a.31941

Abstract   |   Reference

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The Malaysian Orthopaedic Journal is a peer-reviewed journal that is published three times a year in both print and electronic online version. The purpose of this journal is to publish original research studies, evaluation of current practices and case reports in various subspecialties of orthopaedics and traumatology, as well as associated fields like basic science, biomedical engineering, rehabilitation medicine and nursing.

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