Congenital brain structure deformities include the PTEN gene variants. These pathogenic phosphatase and tensin homolog (PTEN) variants are found in patients with cortical malformations. But their impact on the frequency of deformities and clinical phenotype is not well known. This is a systematic study of malformation traits in patients with PTEN variants.
The study systematically assesses the relevance of malformations for clinical presentations. A local radiology database of 22 patients with PTEN variants was searched. They were in the age range of 0.4 to 17 years. Magnetic resonance imaging(MRI) techniques made a review of cortical abnormalities. Electroencephalogram and Electronic Medical Record data were evaluated to find evidence for epilepsy and developmental delays.
Out of 22, 12 or 54% had polymicrogyria or PMG. PTEN variants associated PMG with C2 domain, or atypical, gyration, encoded phosphate regions. But only 2 out of 12 subjects had epilepsy. The trends pointed towards higher rates of global developmental delays, intellectual disability, and motor delays. This cortical abnormality association is, however, statistically limited due to the cohort size.
PTEN pathogenic variants were associated with malformations, specifically PMG. The phenotype delays cognition and motor activity. But epilepsy risk in such patients was not very frequent, thus disproving previous data.