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Article

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.

JAMA neurology - 1 Jun 2013

Liew Wendy K M, Ben-Omran Tawfeg, Darras Basil T, Prabhu Sanjay P, De Vivo Darryl C, Vatta Matteo, Yang Yaping, Eng Christine M, Chung Wendy K

Abstract excerpt

IMPORTANCE: Ataxia in children is a diagnostic challenge. Besides the more common acquired causes of ataxia, there are more than 50 inherited disorders associated with ataxia. Our objective was to highlight whole-exome sequencing as a rapidly evolving clinical tool for diagnosis of mendelian disorders, and we illustrate this in the report of a single case of a novel sequence variation in the SACS gene....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23699708
DOI: 10.1001/jamaneurol.2013.247

Genes

SACS

Provenance

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