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

Cerebellum & Ataxias
M I ShadrinaP 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.

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Citations

Feb 18, 2017·Journal of Neurochemistry·Chihiro Hisatsune, Katsuhiko Mikoshiba
Dec 1, 2017·PloS One·Cheng-Tsung HsiaoBing-Wen Soong
Aug 12, 2016·Physiological Reviews·Michael J Berridge
May 28, 2020·Pflügers Archiv : European journal of physiology·Mercè Izquierdo-SerraMercedes Serrano
Jul 1, 2017·Orphanet Journal of Rare Diseases·Jessica L ZamboninKym M Boycott
Nov 16, 2018·Proceedings of the National Academy of Sciences of the United States of America·Hideaki AndoKatsuhiko Mikoshiba
Oct 24, 2020·The Journal of Biological Chemistry·Lara E TerryDavid I Yule
Jan 18, 2021·The Journal of Biological Chemistry·Lara E TerryDavid I Yule

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Methods Mentioned

BETA
genotyping
PCR
Exome Sequencing

Software Mentioned

PolyPhen2 MutationTaster
fathmm
SIFT
Primer
AlignX®
PolyPhen
MutationTaster
MutationAssessor
Sequence Scanner
mfold

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