SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

Microarrays

Sarah L. Nickerson¹  Renate Marquis-Nicholson²  Karen Claxton¹  Fern Ashton¹  Ivone U. S. Leong¹  Debra O. Prosser¹  Jennifer M. Love¹  Alice M. George¹  Graham Taylor²  Callum Wilson⁴  R. J. McKinlay Gardner³  Donald R. Love¹ 

[1] Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand; E-Mails:;Centre for Translational Pathology, University of Melbourne, Corner Grattan Street and Royal Parade, Parkville, Victoria 3010, Australia; E-Mails:;Clinical Genetics Group, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand; E-mail:;Paediatric Metabolic Service, Starship Children’s Hospital, Auckland 1148, New Zealand; E-Mail:

关键词: SACS;    ARSACS;    sacsin;    autosomal recessive ataxia;    microarray;    exome sequencing;    homozygosity;    consanguinity;   

DOI  :  10.3390/microarrays4040490

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.