Phenotypic variability of TRPV4 related neuropathies

Teresinha Evangelista, Boglarka Bansagi, Angela Pyle, Helen Griffin, Konstantinos Douroudis, Tuomo Polvikoski, Thalia Antoniadi, Kate Bushby, Volker Straub, Patrick F. Chinnery, Hanns Lochmüller, Rita Horvath*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)


Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene have been associated with autosomal dominant skeletal dysplasias and peripheral nervous system syndromes (PNSS). PNSS include Charcot-Marie-Tooth disease (CMT) type 2C, congenital spinal muscular atrophy and arthrogryposis and scapuloperoneal spinal muscular atrophy. We report the clinical, electrophysiological and muscle biopsy findings in two unrelated patients with two novel heterozygous missense mutations in the TRPV4 gene. Whole exome sequencing was carried out on genomic DNA using Illumina TruseqTM 62Mb exome capture. Patient 1 harbours a de novo c.805C > T (p.Arg269Cys) mutation. Clinically, this patient shows signs of both scapuloperoneal spinal muscular atrophy and skeletal dysplasia. Patient 2 harbours a novel c.184G > A (p.Asp62Asn) mutation. While the clinical phenotype is compatible with CMT type 2C with the patient's muscle harbours basophilic inclusions. Mutations in the TRPV4 gene have a broad phenotypic variability and disease severity and may share a similar pathogenic mechanism with Heat Shock Protein related neuropathies.

Original languageEnglish
Pages (from-to)516-521
Number of pages6
JournalNeuromuscular Disorders
Issue number6
Publication statusPublished - 1 Jun 2015
Externally publishedYes


  • Axonal neuropathy
  • Congenital distal spinal muscular atrophy
  • Hereditary motor and sensory neuropathy type 2C
  • Scapuloperoneal spinal muscular atrophy
  • Skeletal dysplasia
  • Transient receptor potential vanilloid 4 gene


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