期刊
HUMAN MUTATION
卷 35, 期 1, 页码 45-49出版社
WILEY
DOI: 10.1002/humu.22451
关键词
ataxia; whole-exome sequencing; clinical diagnosis
资金
- Government of Canada through Genome Canada
- Canadian Institutes of Health Research (CIHR)
- Ontario Genomics Institute [OGI-049]
- Genome Quebec
- University of Toronto McLaughlin Centre
- CIHR Institute of Genetics
- Toupin Research Foundation
- Genome British Columbia
- University of Alberta
Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a molecular diagnosis after standard-of-care assessment in Canada. FORGE (Finding Of Rare disease GEnes) Canada is a nation-wide project focused on identifying novel disease genes for rare pediatric diseases using whole-exome sequencing. We retrospectively selected all FORGE Canada projects that included cerebellar ataxia as a feature. We identified 28 such families and a molecular diagnosis was made in 13; a success rate of 46%. In 11 families, we identified mutations in genes associated with known neurological syndromes and in two we identified novel disease genes. Exome analysis of sib pairs and/or patients born to consanguineous parents was more likely to be successful (9/13) than simplex cases (4/15). Our data suggest that exome sequencing is an effective first line test for pediatric patients with ataxia where a specific single gene is not immediately suspected to be causative.
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