NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.
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.
Department of Paediatrics and Adolescent Medicine,  The University of Hong Kong,  Hong Kong.
Elim
E
Man
Katherine A
KA
Lafferty
Birgit H
BH
Funke
Kin-Shing
KS
Lun
Shu-Yan
SY
Chan
Adolphus Kai-Tung
AK
Chau
Brian Hon-Yin
BH
Chung
D000217:Acyltransferases; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004452:Echocardiography; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013902:Radiography, Thoracic; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
D014157:Transcription Factors; D004247:DNA; D000217:Acyltransferases; C108675:TAFAZZIN protein, human