Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.

Clinical Genetics
M LiP-C Sham

Abstract

Autosomal dominant spinocerebellar ataxias (SCA) constitute a heterogeneous group of inherited disorders. The transglutaminase 6 (TGM6) gene was recently suggested as a SCA causative gene in Chinese SCA families. In this study, two affected members of a three-generation Chinese family with SCA characterized by progressive cerebellar ataxia and lower limb pyramidal signs were subjected to whole exome sequencing. Through bioinformatics analysis of the sequence variants in these two individuals, we identified a novel mutation in the TGM6 gene (c.1528G>C) which showed perfect co-segregation with disease phenotype in all nine members of this family. This finding confirms that mutations in TGM6 gene represent an important cause of SCA in Chinese. This study also shows that whole exome sequencing of a small number of affected individuals, leveraged on bioinformatics analysis, can be an efficient strategy for identifying causative mutations in rare Mendelian disorders.

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Citations

Nov 2, 2013·Neurologic Clinics·Vikram G Shakkottai, Brent L Fogel
Jul 10, 2013·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Yu-Tao LiuJun-Ling Wang
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Sep 20, 2018·The Cerebellum·Chih-Chun LinSheng-Han Kuo
May 20, 2020·Neurology. Genetics·Yanxing ChenKang Wang
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Sep 22, 2017·Human Molecular Genetics·Debasmita TripathyManuela Basso
Jul 25, 2021·International Journal of Molecular Sciences·Luca MarsiliAndrea Sturchio
Aug 18, 2021·Neurogenetics·Ulrich Müller

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