Description of a novel patient with the TRPM3 recurrent p.Val837Met variant

Eur J Med Genet. 2021 Nov;64(11):104320. doi: 10.1016/j.ejmg.2021.104320. Epub 2021 Aug 23.

Abstract

De novo heterozygous missense mutations in TRPM3 have been shown to cause developmental and epileptic encephalopathies (DEE). It is a very rare condition, as only 9 patients have been described to date. We report here a novel patient carrying the recurrent p.Val837Met variant and presenting new clinical features, such as trigonocephaly, expanding the phenotypical spectrum of the disease.

Keywords: Epileptic encephalopathies; Intellectual disability; TRPM3; Trigonocephaly.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Humans
  • Male
  • Mutation, Missense*
  • Phenotype*
  • Spasms, Infantile / diagnostic imaging
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / pathology
  • TRPM Cation Channels / genetics*

Substances

  • TRPM Cation Channels
  • TRPM3 protein, human

Supplementary concepts

  • Infantile Epileptic-Dyskinetic Encephalopathy