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

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TitleWhole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
AuthorsLi, M1
Pang, SYY1
Song, Y1
Kung, MHW1
Ho, SL1
Sham, PC1
KeywordsBioinformatics prioritization
Exome sequencing
Missense mutation
Spinocerebellar ataxias
Transglutaminase 6
Issue Date2012
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
CitationClinical Genetics, 2012, v. 83 n. 3, p. 269-273 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.1399-0004.2012.01895.x
AbstractLi M, Pang SYY, Song Y, Kung MHW, Ho S-L, Sham P-C. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. 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. © 2012 John Wiley & Sons A/S.
DescriptionShort Report
ISSN0009-9163
2011 Impact Factor: 3.128
2011 SCImago Journal Rankings: 0.397
DOIhttp://dx.doi.org/10.1111/j.1399-0004.2012.01895.x
DC Field
Value
dc.contributor.authorLi, M
dc.contributor.authorPang, SYY
dc.contributor.authorSong, Y
dc.contributor.authorKung, MHW
dc.contributor.authorHo, SL
dc.contributor.authorSham, PC
dc.date.accessioned2012-06-22T06:19:37Z
dc.date.available2012-06-22T06:19:37Z
dc.date.issued2012
dc.description.abstractLi M, Pang SYY, Song Y, Kung MHW, Ho S-L, Sham P-C. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. 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. © 2012 John Wiley & Sons A/S.
dc.description.natureLink_to_subscribed_fulltext
dc.descriptionShort Report
dc.identifier.citationClinical Genetics, 2012, v. 83 n. 3, p. 269-273 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.1399-0004.2012.01895.x
dc.identifier.doihttp://dx.doi.org/10.1111/j.1399-0004.2012.01895.x
dc.identifier.epage273
dc.identifier.hkuros199950
dc.identifier.issn0009-9163
2011 Impact Factor: 3.128
2011 SCImago Journal Rankings: 0.397
dc.identifier.issue3
dc.identifier.pmid22554020
dc.identifier.scopuseid_2-s2.0-84874018379
dc.identifier.spage269
dc.identifier.urihttp://hdl.handle.net/10722/149061
dc.identifier.volume83
dc.languageeng
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
dc.publisher.placeDenmark
dc.relation.ispartofClinical Genetics
dc.rightsThe definitive version is available at www.blackwell-synergy.com
dc.subjectBioinformatics prioritization
dc.subjectExome sequencing
dc.subjectMissense mutation
dc.subjectSpinocerebellar ataxias
dc.subjectTransglutaminase 6
dc.titleWhole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong