Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy
| Autor: | Rick Kamps, Irenaeus F.M. de Coo, Iris B W Boesten, Bart de Koning, Hubert J.M. Smeets, Minh Nhut Nguyen, Mike Gerards, Debby M.E.I. Hellebrekers, Jo Vanoevelen |
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| Přispěvatelé: | Neurology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Promovendi CD, Genetica & Celbiologie, MUMC+: DA KG Lab Centraal Lab (9), Ondersteunend personeel CD, Sciences, RS: FSE MaCSBio, RS: FPN MaCSBio, RS: FHML MaCSBio, Klinische Genetica, RS: CARIM - R2.10 - Mitochondrial disease |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Cerebellum Cerebellar Ataxia Short Report Mutation Missense DNA-SEQUENCING DATA Cell Cycle Proteins Genes Recessive Biology medicine.disease_cause 03 medical and health sciences symbols.namesake 0302 clinical medicine Atrophy BURROWS-WHEELER TRANSFORM Genetics medicine Humans Missense mutation Child Gene MUTATION Genetics (clinical) Exome sequencing Sanger sequencing Mutation Autosomal recessive cerebellar ataxia medicine.disease FRAMEWORK Pedigree READ ALIGNMENT 030104 developmental biology medicine.anatomical_structure Codon Terminator symbols Female 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Human Genetics, 24(4), 619-622. Nature Publishing Group |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/ejhg.2015.158 |
| Popis: | Autosomal recessive cerebellar ataxia (ARCA) is a group of neurological disorders characterized by degeneration or abnormal development of the cerebellum and spinal cord. ARCA is clinically and genetically highly heterogeneous, with over 20 genes involved. Exome sequencing of a girl with ARCA from non-consanguineous Dutch parents revealed two pathogenic variants c.37G>C; p.D13H and c.946A>T; p.K316* in CWF19L1, a gene with an unknown function, recently reported to cause ARCA in a Turkish family. Sanger sequencing showed that the c.37G>C variant was inherited from the father and the c.946A>T variant from the mother. Pathogenicity was based on the damaging effect on protein function as the c.37G>C variant changed the highly conserved, negatively charged aspartic acid to the positively charged histidine and the c.946A>T variant introduced a premature stop codon. In addition, 27 patients with ARCA were tested for pathogenic variants in CWF19L1, however, no pathogenic variants were identified. Our data confirm CWF19L1 as a novel but rare gene causing ARCA. |
| Databáze: | OpenAIRE |
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