A novel X-linked gene, G4.5. is responsible for Barth syndrome
A novel X-linked gene, G4.5. is responsible for Barth syndrome
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DOI：
10.1038/ng0496-385
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发表时间：
1996-04-01
期刊：
影响因子：
30.8
通讯作者：
Toniolo, D
中科院分区：
文献类型：
--
作者：
Bione, S;DAdamo, P;Toniolo, D
巴斯综合征是一种严重的遗传性疾病，通常在儿童时期致命，其特征是心脏和骨骼肌病、身材矮小和中性粒细胞减少。该疾病已被定位到Xq28远端部分的一个非常丰富的基因区域。我们现在报告在这个区域中的一个基因中鉴定出独特的突变，称为G4.5，在心肌和骨骼肌中高水平表达。不同的mRNA可以通过初级G4.5转录物的选择性剪接产生，编码在N末端和中心区域不同的新蛋白。这些突变在开放阅读框中引入终止密码子，中断了大多数假定蛋白质（我们称之为“tafazzins”）的翻译。我们的结果表明，G4.5是Barth综合征的遗传位点。
Barth Syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia. The disease has been mapped to a very gene-rich region in distal portion of Xq28. We now report the identification of unique mutations in one of the genes in this region, termed G4.5, expressed at high level in cardiac and skeletal muscle, Different mRNAs can be produced by alternative splicing of the primary G4.5 transcript, encoding novel proteins that differ at the N terminus and in the central region. The mutations introduce stop codons in the open reading frame interrupting translation of most of the putative proteins (which we term 'tafazzins'), Our results suggest that G4.5 is the genetic locus responsible for the Barth syndrome.