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Conference Paper: Identification of TAZ mutation in a family with X-linked dilated cardiomyopathy by Next Generation Sequencing
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TitleIdentification of TAZ mutation in a family with X-linked dilated cardiomyopathy by Next Generation Sequencing
 
AuthorsChung, B
Man, E
Yung, TC
Lun, KS
Chau, AKT
 
KeywordsBiology
Genetics
 
Issue Date2012
 
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
 
CitationThe 2012 European Human Genetics Conference (ESHG 2012) in conjunction with the European Meeting on Psychosocial Aspects of Genetics and the German Society of Human Genetics, Nürnberg, Germany, 23-26 June 2012. In European Journal of Human Genetics, 2012, v. 20 n. suppl. 1, p. 101, abstract no. P02.250 [How to Cite?]
 
AbstractFamilial dilated cardiomyopathy (DCM) is defined as DCM of unknown cause in 2 or more closely related family members. We reported a family with 2 male siblings both presented with heart failure in infancy and subsequently confirmed to have DCM without conduction abnormalities. Endo-myocardial biopsy (in the elder sibling), extensive metabolic workup, viral studies and NimbleGen CGX-12 array were all normal. Oligonucleotide-based target capture (Sureselect, Agilent) followed by next generation sequencing (Illumina HiSeq2000) was used to capture variants of 46 genes implicated in the causation of cardiomyopathy (Partners Healthcare Center for Personalized Genetic Medicine). Clinically significant /novel variants are confirmed by independent Sanger sequencing. A hemizygous variant c.718G>C (p.Gly240Arg) in exon 10 of TAZ gene is identified. This variant is likely pathogenic as it has been reported in 5 individuals with X-linked infantile DCM and was described in a family with endocardial fibroelastosis. So far, the 2 siblings did not show evidence of skeletal myopathy, stunted growth, neutropenia or abnormal urine organic acid analysis. Next generation sequencing (NGS) allows efficient screening of a panel of genes in complex disorders like DCM, in which there is substantial overlap among phenotypes, multiple causative genes, and some mutations associated with > 1 phenotype. The identification of TAZ mutation has major impact in the medical surveillance of our patients as they need to be monitored for symptoms of Barth syndrome in addition to DCM.
 
DescriptionPoster: P02.250
This journal suppl. contain Abstracts of ESHG Conference 2012
 
ISSN1018-4813
2013 Impact Factor: 4.225
2013 SCImago Journal Rankings: 1.909
 
DC FieldValue
dc.contributor.authorChung, B
 
dc.contributor.authorMan, E
 
dc.contributor.authorYung, TC
 
dc.contributor.authorLun, KS
 
dc.contributor.authorChau, AKT
 
dc.date.accessioned2012-07-16T09:57:36Z
 
dc.date.available2012-07-16T09:57:36Z
 
dc.date.issued2012
 
dc.description.abstractFamilial dilated cardiomyopathy (DCM) is defined as DCM of unknown cause in 2 or more closely related family members. We reported a family with 2 male siblings both presented with heart failure in infancy and subsequently confirmed to have DCM without conduction abnormalities. Endo-myocardial biopsy (in the elder sibling), extensive metabolic workup, viral studies and NimbleGen CGX-12 array were all normal. Oligonucleotide-based target capture (Sureselect, Agilent) followed by next generation sequencing (Illumina HiSeq2000) was used to capture variants of 46 genes implicated in the causation of cardiomyopathy (Partners Healthcare Center for Personalized Genetic Medicine). Clinically significant /novel variants are confirmed by independent Sanger sequencing. A hemizygous variant c.718G>C (p.Gly240Arg) in exon 10 of TAZ gene is identified. This variant is likely pathogenic as it has been reported in 5 individuals with X-linked infantile DCM and was described in a family with endocardial fibroelastosis. So far, the 2 siblings did not show evidence of skeletal myopathy, stunted growth, neutropenia or abnormal urine organic acid analysis. Next generation sequencing (NGS) allows efficient screening of a panel of genes in complex disorders like DCM, in which there is substantial overlap among phenotypes, multiple causative genes, and some mutations associated with > 1 phenotype. The identification of TAZ mutation has major impact in the medical surveillance of our patients as they need to be monitored for symptoms of Barth syndrome in addition to DCM.
 
dc.description.naturelink_to_OA_fulltext
 
dc.descriptionPoster: P02.250
 
dc.descriptionThis journal suppl. contain Abstracts of ESHG Conference 2012
 
dc.identifier.citationThe 2012 European Human Genetics Conference (ESHG 2012) in conjunction with the European Meeting on Psychosocial Aspects of Genetics and the German Society of Human Genetics, Nürnberg, Germany, 23-26 June 2012. In European Journal of Human Genetics, 2012, v. 20 n. suppl. 1, p. 101, abstract no. P02.250 [How to Cite?]
 
dc.identifier.epage101
 
dc.identifier.hkuros201966
 
dc.identifier.issn1018-4813
2013 Impact Factor: 4.225
2013 SCImago Journal Rankings: 1.909
 
dc.identifier.issuesuppl. 1
 
dc.identifier.spage101
 
dc.identifier.urihttp://hdl.handle.net/10722/153131
 
dc.identifier.volume20
 
dc.languageeng
 
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofEuropean Journal of Human Genetics
 
dc.subjectBiology
 
dc.subjectGenetics
 
dc.titleIdentification of TAZ mutation in a family with X-linked dilated cardiomyopathy by Next Generation Sequencing
 
dc.typeConference_Paper
 
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