PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature
| Autor: | Alex R. Paciorkowski, Ghayda M. Mirzaa, Laurie E. Seltzer, Emily Tuttle, Kaylee Park |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Nonsynonymous substitution Pediatrics medicine.medical_specialty Genetic heterogeneity business.industry Encephalopathy medicine.disease 03 medical and health sciences Epilepsy 030104 developmental biology 0302 clinical medicine Intellectual disability Genetics medicine Dubowitz syndrome Global developmental delay business 030217 neurology & neurosurgery Genetics (clinical) Exome sequencing |
| Zdroj: | American journal of medical genetics. Part A. 173(7) |
| ISSN: | 1552-4833 |
| Popis: | Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a male presenting with infantile onset epilepsy and syndromic features resembling Dubowitz syndrome identified to have a de novo PLXNA1 variant by whole exome sequencing. This constitutes the second report of PLXNA1 sequence variation associated with early onset epilepsy, and the first to expand on the clinical features of this emerging disorder. This reports suggests that nonsynonymous de novo sequence variations in PLXNA1 are associated with a novel human phenotype characterized by intractable early onset epilepsy, intellectual disability, and syndromic features. |
| Databáze: | OpenAIRE |
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