In:
Microarrays, MDPI AG, Vol. 4, No. 4 ( 2015-10-23), p. 490-502
Abstract:
Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in exon 10 of the SACS gene: c.7962T 〉 G p.(Tyr2654*), establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Our findings expand both the genetic and phenotypic spectrum of this rare disorder, and highlight the value of high-density SNP analysis and whole exome sequencing as powerful and cost-effective tools in the diagnosis of genetically heterogeneous disorders such as the hereditary ataxias.
Type of Medium:
Online Resource
ISSN:
2076-3905
DOI:
10.3390/microarrays4040490
Language:
English
Publisher:
MDPI AG
Publication Date:
2015
detail.hit.zdb_id:
2662253-1