Abstract | 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. OBSERVATIONS: A 4-year-old girl presented with delayed gross motor development, ataxia, and polyneuropathy. Results of initial testing for the common causes of inherited and acquired ataxia were unrevealing. Whole-exome sequencing showed a novel frameshift homozygous sequence variation in the SACS gene, consistent with the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. CONCLUSIONS: Whole-exome sequencing is a powerful clinical tool that has been increasingly used to assist in the diagnosis of mendelian disorders. It provides a cost-effective, efficient, and expedited approach to making a clinical diagnosis and, in some cases, may be the only way to make a diagnosis.
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Authors | Wendy K M Liew, Tawfeg Ben-Omran, Basil T Darras, Sanjay P Prabhu, Darryl C De Vivo, Matteo Vatta, Yaping Yang, Christine M Eng, Wendy K Chung |
Journal | JAMA neurology
(JAMA Neurol)
Vol. 70
Issue 6
Pg. 788-91
(Jun 2013)
ISSN: 2168-6157 [Electronic] United States |
PMID | 23699708
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
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Topics |
- Child, Preschool
- Exome
(genetics)
- Female
- Genetic Variation
(genetics)
- Humans
- Muscle Spasticity
(diagnosis, genetics)
- Sequence Analysis, DNA
(methods)
- Spinocerebellar Ataxias
(congenital, diagnosis, genetics)
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