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

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

doi:10.1186/s40673-016-0040-8

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

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

Institute of Molecular Genetics RAS
Research Center of Neurology
University of Tartu

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

Background: Spinocerebellar ataxias (S?As) 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 fourgenerationfamily with autosomal dominant (AD) non-progressive SCA with mild symptoms was conducted. Thegenotyping of this family revealed no frequent pathogenic mutations. So the objective of this study was to identifythe 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 structureprediction, 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.

Original language	English
Article number	2
Journal	Cerebellum and Ataxias
Volume	3
Issue number	1
DOIs	https://doi.org/10.1186/s40673-016-0040-8
State	Published - Jan 1 2016

Keywords

ITPR1
Sanger sequencing
Spinocerebellar ataxia
Whole-exome sequencing

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10.1186/s40673-016-0040-8

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title = "ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia",

abstract = "Background: Spinocerebellar ataxias (S?As) 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 fourgenerationfamily with autosomal dominant (AD) non-progressive SCA with mild symptoms was conducted. Thegenotyping of this family revealed no frequent pathogenic mutations. So the objective of this study was to identifythe 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 structureprediction, 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.",

keywords = "ITPR1, Sanger sequencing, Spinocerebellar ataxia, Whole-exome sequencing",

author = "Shadrina, \{M. I.\} and Shulskaya, \{M. V.\} and Klyushnikov, \{S. A.\} and T. Nikopensius and M. Nelis and Kivistik, \{P. A.\} and Komar, \{A A\} and Limborska, \{S. A.\} and Illarioshkin, \{S. N.\} and Slominsky, \{P. A.\}",

year = "2016",

month = jan,

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doi = "10.1186/s40673-016-0040-8",

language = "English",

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T1 - ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia

AU - Shadrina, M. I.

AU - Shulskaya, M. V.

AU - Klyushnikov, S. A.

AU - Nikopensius, T.

AU - Nelis, M.

AU - Kivistik, P. A.

AU - Komar, A A

AU - Limborska, S. A.

AU - Illarioshkin, S. N.

AU - Slominsky, P. A.

PY - 2016/1/1

Y1 - 2016/1/1

N2 - Background: Spinocerebellar ataxias (S?As) 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 fourgenerationfamily with autosomal dominant (AD) non-progressive SCA with mild symptoms was conducted. Thegenotyping of this family revealed no frequent pathogenic mutations. So the objective of this study was to identifythe 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 structureprediction, 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.

AB - Background: Spinocerebellar ataxias (S?As) 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 fourgenerationfamily with autosomal dominant (AD) non-progressive SCA with mild symptoms was conducted. Thegenotyping of this family revealed no frequent pathogenic mutations. So the objective of this study was to identifythe 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 structureprediction, 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.

KW - ITPR1

KW - Sanger sequencing

KW - Spinocerebellar ataxia

KW - Whole-exome sequencing

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

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Keywords

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