A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy
| Autor: | Aojie cai, Xuechao Zhao, Yanhong Wang, Shiyue Mei, Ning Liu, Xiangdong Kong |
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| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Adolescent Developmental Disabilities RNA Splicing 030105 genetics & heredity Biology medicine.disease_cause 03 medical and health sciences Intellectual Disability Exome Sequencing Genetics medicine Humans Global developmental delay Child Gene Genetics (clinical) Exome sequencing Early onset Mutation Epilepsy Epileptic encephalopathy Homozygote Syndrome General Medicine Phenotype Pedigree 030104 developmental biology RNA splicing Female |
| Zdroj: | European Journal of Medical Genetics. 64:104101 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2020.104101 |
| Popis: | N-ethylmaleimide-sensitive factor attachment proteins (NAP: NAPA and NAPB) play a role in Soluble N-ethylmaleimide-sensitive accessory protein receptor (SNARE) complex dissociation and recycling, associated with neuronal regulation and brain development and various severe early-onset epilepsies. Here, we report two patients from a Chinese family presenting with unexplained early-onset epileptic encephalopathies (EOEE) syndrome characterized by multifocal seizures, profound intellectual disability and global developmental delay. We identified the homozygous c.433-1G > A variant of the NAPB as the causative by trio-based exome sequencing. The novel splicing mutation in NAPB was third variant reported associated with EOEE syndrome. Our results gave further hints on the associations of variants in NAPB with EOEE and indicated that for patients with unexplained EOEE, the NAPB gene should be included into the data analysis from whole exome sequencing, which contributes to uncover more patients affected and rich the phenotypic spectrum. |
| Databáze: | OpenAIRE |
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