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Conference Paper: Identification of TAZ mutation in a family with X-linked dilated cardiomyopathy by Next Generation Sequencing

TitleIdentification of TAZ mutation in a family with X-linked dilated cardiomyopathy by Next Generation Sequencing
Authors
KeywordsBiology
Genetics
Issue Date2012
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
The 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
Persistent Identifierhttp://hdl.handle.net/10722/153131
ISSN
2014 Impact Factor: 4.349
2014 SCImago Journal Rankings: 1.615

 

DC FieldValueLanguage
dc.contributor.authorChung, Ben_US
dc.contributor.authorMan, Een_US
dc.contributor.authorYung, TCen_US
dc.contributor.authorLun, KSen_US
dc.contributor.authorChau, AKT-
dc.date.accessioned2012-07-16T09:57:36Z-
dc.date.available2012-07-16T09:57:36Z-
dc.date.issued2012en_US
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. P02.250en_US
dc.identifier.issn1018-4813-
dc.identifier.urihttp://hdl.handle.net/10722/153131-
dc.descriptionPoster: P02.250-
dc.descriptionThis journal suppl. contain Abstracts of ESHG Conference 2012-
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.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg-
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.subjectBiology-
dc.subjectGenetics-
dc.titleIdentification of TAZ mutation in a family with X-linked dilated cardiomyopathy by Next Generation Sequencingen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, B: bhychung@hku.hken_US
dc.identifier.emailMan, E: elimman@gmail.comen_US
dc.identifier.emailYung, TC: tcyung@hku.hken_US
dc.identifier.emailLun, KS: lunks@hkucc.hku.hken_US
dc.identifier.emailChau, AKT: aktchau@hku.hk-
dc.identifier.authorityChung, B=rp00473en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros201966en_US
dc.identifier.volume20-
dc.identifier.issuesuppl. 1-
dc.identifier.spage101-
dc.identifier.epage101-
dc.publisher.placeUnited Kingdom-

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