A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17
| Autor: | Samah A AlMatrafi, Bader Shirah, Muhammad Imran Naseer, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Hussein Algahtani |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Male Cerebellar Ataxia Mutation Missense Late onset Cell Cycle Proteins Biology 03 medical and health sciences Epilepsy Consanguinity 0302 clinical medicine medicine Missense mutation Humans Family Gene Genetics Autosomal recessive cerebellar ataxia General Medicine medicine.disease Pedigree 030104 developmental biology Neurology Female Neurology (clinical) Novel mutation 030217 neurology & neurosurgery |
| Zdroj: | Neurological research. 43(2) |
| ISSN: | 1743-1328 |
| Popis: | Previously published studies demonstrated that mutations inWe included two female patients with typical symptoms of cerebellar ataxia supported by the MRI findings. Whole exome sequencing (WES) data analysis was performed to identify the underlying genetic defect in the proband. Sanger sequencing was used to confirm the variant in other family members.WES revealed a homozygous missense variant in CWF19-like protein 1;In conclusion, we report a novel variant in |
| Databáze: | OpenAIRE |
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