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A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a
Qingyun Kang1, Liming Yang1, Hongmei Liao1
1Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.
Insights
This study identifies a novel de novo missense mutation in the TRPM3 gene, p.(S1202T), as a cause of developmental and epileptic encephalopathy (DEE). This discovery expands the known genetic causes of DEE.
Area of Science:
- Neuroscience
- Genetics
Background:
- Developmental and epileptic encephalopathies (DEEs) are severe neurological disorders often linked to genetic mutations.
- Mutations in the TRPM3 gene have been previously implicated in causing DEE.
Observation:
- A novel de novo missense mutation, p.(S1202T), in the TRPM3 gene was identified in a patient with DEE.
- The patient presented with recurrent polymorphic seizures and intellectual disability, consistent with DEE.
Findings:
- The identified TRPM3 mutation, p.(S1202T), is a previously unreported missense substitution.
- This finding confirms TRPM3 as a gene associated with DEE.
Implications:
- The discovery broadens the spectrum of known TRPM3 mutations linked to DEE.
- This research supports the role of de novo TRPM3 substitutions in the etiology of DEE, aiding in genetic diagnosis and counseling.
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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