A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy
| Autor: | Małgorzata Rydzanicz, Piotr Zwoliński, Agnieszka Pollak, Rafał Płoski, Anna Walczak, Grażyna Kostrzewa, Piotr Gasperowicz, Magdalena Konarzewska |
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| Rok vydání: | 2021 |
| Předmět: |
Developmental Disabilities
Mutation Missense medicine.disease_cause Bioinformatics Pathogenesis Epilepsy Intellectual Disability Exome Sequencing Genetics medicine Humans In patient Genetic Predisposition to Disease Clinical phenotype Gene Genetics (clinical) Exome sequencing Mutation Brain Diseases business.industry Epileptic encephalopathy medicine.disease Phenotype Shaw Potassium Channels Child Preschool Female business |
| Zdroj: | American journal of medical genetics. Part AREFERENCES. 185(11) |
| ISSN: | 1552-4833 |
| Popis: | Developmental and epileptic encephalopathies (DEE) are a heterogenous group of conditions characterized by the co-occurrence of epilepsy and intellectual/developmental disability. Despite several known DEE-related genes, including these encoding ion channels, still many cases remain without molecular diagnosis. Here, we present a 2-year-old girl with severe DEE in whom whole exome sequencing revealed de novo p.(Val471Leu) variant in the KCNC2 encoding Kv3.2, a voltage-gated potassium channel. To the best of our knowledge, this is the third DEE case due to KCNC2 mutation. Our clinical and molecular findings, particularly the recurrence of p.(Val471Leu) in patient with similar clinical phenotype, further support KCNC2 as a novel DEE-associated gene. |
| Databáze: | OpenAIRE |
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