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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 1 1
Pang, SYY1
Song, Y1
Kung, MHW1
Ho, SL1
Sham, PC1 1 1
 
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
2012 Impact Factor: 3.944
2012 SCImago Journal Rankings: 1.300
 
DOIhttp://dx.doi.org/10.1111/j.1399-0004.2012.01895.x
 
DC FieldValue
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
2012 Impact Factor: 3.944
2012 SCImago Journal Rankings: 1.300
 
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
 
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<item><contributor.author>Li, M</contributor.author>
<contributor.author>Pang, SYY</contributor.author>
<contributor.author>Song, Y</contributor.author>
<contributor.author>Kung, MHW</contributor.author>
<contributor.author>Ho, SL</contributor.author>
<contributor.author>Sham, PC</contributor.author>
<date.accessioned>2012-06-22T06:19:37Z</date.accessioned>
<date.available>2012-06-22T06:19:37Z</date.available>
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<description>Short Report</description>
<description.abstract>Li 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&gt;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. &#169; 2012 John Wiley &amp; Sons A/S.</description.abstract>
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<subject>Bioinformatics prioritization</subject>
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<subject>Missense mutation</subject>
<subject>Spinocerebellar ataxias</subject>
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Author Affiliations
  1. The University of Hong Kong