BMC Pediatrics (Jun 2021)

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

  • Qingyun Kang,
  • Liming Yang,
  • Hongmei Liao,
  • Sai Yang,
  • Xiaojun Kuang,
  • Zeshu Ning,
  • Caishi Liao,
  • Bo Chen

DOI
https://doi.org/10.1186/s12887-021-02719-8
Journal volume & issue
Vol. 21, no. 1
pp. 1 – 5

Abstract

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Abstract Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. Mutations in TRPM3 were identified as the cause of DEE. We report a novel patient with DEE carrying a de novo missense mutation in TRPM3, p.(S1202T); this missense mutation has never been reported. Case presentation A 7-year and 2-month-old Chinese patient who had recurrent polymorphic seizures was clinically diagnosed with DEE. A de novo missense mutation in TRPM3, which has not yet been reported, was identified in this case. The patient had a clinical phenotype consistent with previous reports. Conclusions These findings could expand the spectrum of TRPM3 mutations and might also support that de novo substitutions of TRPM3 are a cause of DEE.

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