Polymicrogyria is associated with pathogenic variants in PTEN
| Autor: | Diane D. Shao, Allen Y. Chen, Abbe Lai, Siddharth Srivastava, Edward Yang, Christopher A. Walsh, Lance H. Rodan, Ryan N. Doan, Christelle M. Achkar, Annapurna Poduri |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Male Adolescent Developmental Disabilities Neuroimaging Comorbidity Electroencephalography Bioinformatics Article 03 medical and health sciences Epilepsy 0302 clinical medicine Intellectual Disability Intellectual disability Databases Genetic Polymicrogyria medicine PTEN Tensin Humans Global developmental delay Child biology medicine.diagnostic_test business.industry PTEN Phosphohydrolase Brain Infant medicine.disease Phenotype Magnetic Resonance Imaging 030104 developmental biology Neurology Massachusetts Child Preschool biology.protein Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Ann Neurol |
| Popis: | OBJECTIVE Congenital structural brain malformations have been described in patients with pathogenic phosphatase and tensin homologue (PTEN) variants, but the frequency of cortical malformations in patients with PTEN variants and their impact on clinical phenotype are not well understood. Our goal was to systematically characterize brain malformations in patients with PTEN variants and assess the relevance of their brain malformations to clinical presentation. METHODS We systematically searched a local radiology database for patients with PTEN variants who had available brain magnetic resonance imaging (MRI). The MRI scans were reviewed systematically for cortical abnormalities. We reviewed electroencephalogram (EEG) data and evaluated the electronic medical record for evidence of epilepsy and developmental delay. RESULTS In total, we identified 22 patients with PTEN pathogenic variants for which brain MRIs were available (age range 0.4-17 years). Twelve among these 22 patients (54%) had polymicrogyria (PMG). Variants associated with PMG or atypical gyration encoded regions of the phosphatase or C2 domains of PTEN. Interestingly, epilepsy was present in only 2 of the 12 patients with PMG. We found a trend toward higher rates of global developmental delay (GDD), intellectual disability (ID), and motor delay in individuals with cortical abnormalities, although cohort size limited statistical significance. INTERPRETATION Malformations of cortical development, PMG in particular, represent an under-recognized phenotype associated with PTEN pathogenic variants and may have an association with cognitive and motor delays. Epilepsy was infrequent compared to the previously reported high risk of epilepsy in patients with PMG. ANN NEUROL 2020;88:1153-1164. |
| Databáze: | OpenAIRE |
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