Novel COL4A2 mutation causing familial malformations of cortical development.
1Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy. s.gasparini@unicz.it.
European Review for Medical and Pharmacological Sciences
|February 12, 2021
Summary
A novel mutation in the COL4A2 gene was identified in two family members with epilepsy and cortical malformations. This finding expands the known phenotypic spectrum for COL4A2 mutations.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Mutations in the COL4A2 gene are associated with various neurological disorders.
- The phenotypic spectrum of COL4A2 mutations, particularly concerning cortical development malformations and epilepsy, requires further elucidation.
Observation:
- Two family members presented with distinct neurological phenotypes: adult-onset seizures with cortical malformations and childhood-onset epilepsy with developmental delay and porencephaly.
- Brain imaging revealed diverse malformations of cortical development, including schizencephaly, polymicrogyria, subcortical heterotopia, and encephalomalacia.
Findings:
- Next-generation sequencing identified a novel missense mutation (c.2972G>A, Gly991Glu) in the COL4A2 gene in both affected individuals.
- This mutation segregates with the observed epilepsy and cortical malformation phenotypes within the family.
Implications:
- This study expands the known clinical spectrum of COL4A2-related disorders.
- Genetic testing for COL4A mutations should be considered in patients with malformations of cortical development and epilepsy, especially in familial cases, even without typical features like porencephaly or early stroke.
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