Document Detail

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.
MedLine Citation:
PMID:  23345479     Owner:  NLM     Status:  In-Data-Review    
We reported a family with two male siblings affected with infantile dilated cardiomyopathy (DCM). Extensive evaluation failed to identify the underlying cause for the DCM. Next generation sequencing (NGS) with targeted enrichment identified a hemizygous variant c.718G>C (p.Gly240Arg) in the TAZ gene. This variant has been reported in three other families with X linked infantile DCM and is therefore likely pathogenic. NGS allows efficient screening of a large number of uncommon genes in complex disorders like DCM, in which there is substantial genetic and phenotypic heterogeneity. The identification of TAZ mutation has major impact on their medical care as the surveillance needs to be expanded to cover for the Barth syndrome, a severe metabolic phenotype also caused by TAZ mutation, in addition to DCM.
Elim Man; Katherine A Lafferty; Birgit H Funke; Kin-Shing Lun; Shu-Yan Chan; Adolphus Kai-Tung Chau; Brian Hon-Yin Chung
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Publication Detail:
Type:  Journal Article     Date:  2013-01-22
Journal Detail:
Title:  BMJ case reports     Volume:  2013     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2013  
Date Detail:
Created Date:  2013-01-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong.
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