ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

ABSTRACT:

Background

Spinocerebellar ataxias (SСAs) are a highly heterogeneous group of inherited neurological disorders. The symptoms of ataxia vary in individual patients and even within the same SCA subtype. A study of a four-generation family with autosomal dominant (AD) non-progressive SCA with mild symptoms was conducted. The genotyping of this family revealed no frequent pathogenic mutations. So the objective of this study was to identify the genetic causes of the disease in this family with the technology of whole-exome sequencing (WES).

Methods and results

WES, candidate variant analysis with further Sanger sequencing, mRNA secondary structure prediction, and RSCU analysis were performed; a heterozygous missense mutation in ITPR1 was identified.

Conclusion

Our study co

SUBMITTER: Shadrina MI 

PROVIDER: S-EPMC4712497 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature