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Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome by Martine Tetreault; Care4Rare Canada Consortium; Somayyeh Fahiminiya; Hana Antonicka; Grant A. Mitchell; Michael T. Geraghty; Matthew Lines; Kym M. Boycott; Eric A. Shoubridge; John J. Mitchell; Jacques L. Michaud; Jacek Majewski is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome about?

Leigh syndrome (LS) is a rare heterogeneous progressive neurodegenerative disorder usually presenting in infancy or early childhood. Clinical presentation is variable and includes psychomotor delay or regression, acute neurological or acidotic episodes, hypotonia, ataxia, spasticity, movement disorders, and corresponding anomalies of the basal ganglia and brain stem on magnetic resonance imaging. To date, 35 genes have been associated with LS, mostly involved in mitochondrial respiratory chain function and encoded in either nuclear or mitochondrial DNA. We used whole-exome sequencing to identify disease-causing variants in four patients with basal ganglia abnormalities and clinical presentations consistent with LS. Compound heterozygote variants in ECHS1, encoding the enzyme enoyl-CoA hydratase were identified. One missense variant (p.Thr180Ala) was common to all four patients and the haplotype surrounding this variant was also shared, suggesting a common ancestor of French-Canadian origin. Rare mutations in ECHS1 as well as in HIBCH, the enzyme downstream in the valine degradation pathway, have been associated with LS or LS-like disorders. A clear clinical overlap is observed betw

Who reads Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome?

Author

Martine Tetreault; Care4Rare Canada Consortium; Somayyeh Fahiminiya; Hana Antonicka; Grant A. Mitchell; Michael T. Geraghty; Matthew Lines; Kym M. Boycott; Eric A. Shoubridge; John J. Mitchell; Jacques L. Michaud; Jacek Majewski

Publisher

Springer Science and Business Media LLC

Published

2015

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)