NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy

摘要: We reported a family with two male siblings affected infantile dilated cardiomyopathy (DCM). Extensive evaluation failed to identify the underlying cause for DCM. Next generation sequencing (NGS) targeted enrichment identified hemizygous variant c.718G>C (p.Gly240Arg) in TAZ gene. This has been three other families X linked DCM and is therefore likely pathogenic. NGS allows efficient screening of large number uncommon genes complex disorders like DCM, which there substantial genetic phenotypic heterogeneity. The identification mutation major impact on their medical care as surveillance needs be expanded cover Barth syndrome, severe metabolic phenotype also caused by mutation, addition