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

• Published in: BMJ case reports 2013-01, Vol.2013, p.bcr2012007529
• Main Authors: Man, Elim, Lafferty, Katherine A, Funke, Birgit H, Lun, Kin-Shing, Chan, Shu-Yan, Chau, Adolphus Kai-Tung, Chung, Brian Hon-Yin
• Format: Article
• Language: English
• Subjects: Age; Asia; Cardiomyopathy; Chinese; Clinical medicine; Deoxyribonucleic acid; Diagnosis, Differential; Disease; DNA; DNA - genetics; DNA Mutational Analysis; Echocardiography; Families & family life; Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect; Gene expression; Heart; Humans; Infant, Newborn; Male; Metabolic disorders; Muscular Dystrophy, Duchenne - diagnosis; Muscular Dystrophy, Duchenne - genetics; Muscular Dystrophy, Duchenne - metabolism; Mutation; Pathogenesis; Pedigree; Phenotype; Radiography, Thoracic; Rodents; Transcription Factors - genetics; Transcription Factors - metabolism; Ultrasonic imaging
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2012-007529

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.