| Title: |
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia |
| Authors: |
Shadrina, M.; Shulskaya, M.; Klyushnikov, S.; Nikopensius, T.; Nelis, M.; Kivistik, P.; Komar, A.; Limborska, S.; Illarioshkin, S.; Slominsky, P. |
| Publisher Information: |
BioMed Central Ltd. |
| Publication Year: |
2016 |
| Collection: |
BioMed Central |
| Subject Terms: |
Spinocerebellar ataxia; ITPR1; Whole-exome sequencing; Sanger sequencing |
| Description: |
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 confirms the fact that ITPR1 gene plays a certain role in the pathogenesis of SCAs, and, therefore, we suggest that c.4657G>A p.Val1553Met) is a disease-causing mutation in the family studied. |
| Document Type: |
report |
| Language: |
English |
| Relation: |
http://www.cerebellumandataxias.com/content/3/1/2 |
| Availability: |
http://www.cerebellumandataxias.com/content/3/1/2 |
| Rights: |
Copyright 2016 Shadrina et al. |
| Accession Number: |
edsbas.5A899A18 |
| Database: |
BASE |