Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

Eur J Med Genet. 2020 Aug;63(8):103942. doi: 10.1016/j.ejmg.2020.103942. Epub 2020 May 18.


Dyment et al. (2019) recently reported eight novel patients with intellectual disability and epilepsy associated with heterozygous de novo missense variants in TRPM3. We report a novel patient with the same recurrent de novo missense of TRPM3 found in seven of these eight cases, p.(Val837Met), providing an emphasis towards ocular and joints defects along with a non-mandatory epilepsy.

Keywords: Autosomal dominant; Intellectual disability; KIAA1616; LTRPC3; Recurrent de novo missense; TRPM3.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Epilepsy / genetics*
  • Epilepsy / pathology
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Mutation, Missense*
  • Phenotype*
  • TRPM Cation Channels / genetics*


  • TRPM Cation Channels
  • TRPM3 protein, human