Man Elim, Lafferty Katherine A, Funke Birgit H, Lun Kin-Shing, Chan Shu-Yan, Chau Adolphus Kai-Tung, Chung Brian Hon-Yin
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong.
BMJ Case Rep. 2013 Jan 22;2013:bcr2012007529. 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.
我们报告了一个有两名男性同胞患婴儿型扩张型心肌病（DCM）的家庭。广泛评估未能确定DCM的潜在病因。通过靶向富集的下一代测序（NGS）在TAZ基因中鉴定出一个半合子变体c.718G>C（p.Gly240Arg）。该变体已在其他三个患有X连锁婴儿型DCM的家庭中报道，因此可能具有致病性。NGS能够有效筛查复杂疾病（如DCM）中的大量罕见基因，DCM存在大量的遗传和表型异质性。TAZ突变的鉴定对他们的医疗护理有重大影响，因为除了DCM外，监测还需要扩大到涵盖Barth综合征，这是一种同样由TAZ突变引起的严重代谢表型。
