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

TitleWhole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
Authors
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
Citation
Clinical Genetics, 2012, v. 83 n. 3, p. 269-273 How to Cite?
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
Persistent Identifierhttp://hdl.handle.net/10722/149061
ISSN
2014 Impact Factor: 3.931
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLi, Men_HK
dc.contributor.authorPang, SYYen_HK
dc.contributor.authorSong, Yen_HK
dc.contributor.authorKung, MHWen_HK
dc.contributor.authorHo, SLen_HK
dc.contributor.authorSham, PCen_HK
dc.date.accessioned2012-06-22T06:19:37Z-
dc.date.available2012-06-22T06:19:37Z-
dc.date.issued2012en_HK
dc.identifier.citationClinical Genetics, 2012, v. 83 n. 3, p. 269-273en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/149061-
dc.descriptionShort Report-
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.en_HK
dc.languageengen_US
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_HK
dc.relation.ispartofClinical Geneticsen_HK
dc.rightsThe definitive version is available at www.blackwell-synergy.com-
dc.subjectBioinformatics prioritizationen_HK
dc.subjectExome sequencingen_HK
dc.subjectMissense mutationen_HK
dc.subjectSpinocerebellar ataxiasen_HK
dc.subjectTransglutaminase 6en_HK
dc.titleWhole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.en_HK
dc.typeArticleen_HK
dc.identifier.emailLi, M: mxli@hku.hken_HK
dc.identifier.emailSong, Y: songy@hku.hk-
dc.identifier.emailKung, MHW: mhwkung@hkucc.hku.hk-
dc.identifier.emailHo, SL: slho@hku.hk-
dc.identifier.emailSham, PC: pcsham@.hku.hk-
dc.identifier.authorityLi, M=rp01722en_HK
dc.identifier.authoritySong, Y=rp00488-
dc.identifier.authorityHo, SL=rp00240-
dc.identifier.authoritySham, PC=rp00459-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/j.1399-0004.2012.01895.xen_HK
dc.identifier.pmid22554020-
dc.identifier.scopuseid_2-s2.0-84874018379en_HK
dc.identifier.hkuros199950en_US
dc.identifier.volume83-
dc.identifier.issue3-
dc.identifier.spage269en_US
dc.identifier.epage273en_US
dc.identifier.isiWOS:000315098600011-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridHo, SL=55232837100en_HK
dc.identifier.scopusauthoridKung, MHW=55232196100en_HK
dc.identifier.scopusauthoridSong, Y=47761560700en_HK
dc.identifier.scopusauthoridPang, SYY=55232257600en_HK
dc.identifier.scopusauthoridLi, M=55232909800en_HK

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