Title |
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia
|
---|---|
Published in |
Cerebellum & Ataxias, January 2016
|
DOI | 10.1186/s40673-016-0040-8 |
Pubmed ID | |
Authors |
M. I. Shadrina, M. V. Shulskaya, S. A. Klyushnikov, T. Nikopensius, M. Nelis, P. A. Kivistik, A. A. Komar, S. A. Limborska, S. N. Illarioshkin, P. A. Slominsky |
Abstract |
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). 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. 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 25% |
Unknown | 3 | 75% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 75% |
Science communicators (journalists, bloggers, editors) | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 18 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 4 | 22% |
Researcher | 4 | 22% |
Student > Bachelor | 3 | 17% |
Student > Ph. D. Student | 3 | 17% |
Other | 1 | 6% |
Other | 3 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 4 | 22% |
Agricultural and Biological Sciences | 3 | 17% |
Neuroscience | 3 | 17% |
Biochemistry, Genetics and Molecular Biology | 2 | 11% |
Nursing and Health Professions | 2 | 11% |
Other | 2 | 11% |
Unknown | 2 | 11% |