Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome

被引：0
|
作者：
O. Sakamoto
T. Kitoh
T. Ohura
N. Ohya
K. Iinuma
机构：
[1] Department of Pediatrics,
[2] Tohoku University School of Medicine,undefined
[3] 1-1 Seiryo-machi,undefined
[4] Aoba-ku,undefined
[5] Sendai 980-8574,undefined
[6] Japan Tel. +81-22-717-7287; Fax +81-22-717-7290 e-mail: tohura@ped.med.tohoku.ac.jp,undefined
[7] Department of Pediatrics,undefined
[8] Shiga Medical Center for Children,undefined
[9] Shiga,undefined
[10] Japan,undefined
[11] Department of Community Health Nursing,undefined
[12] Faculty of Nursing,undefined
[13] Shiga University of Medical Science,undefined
[14] Shiga,undefined
[15] Japan,undefined
来源：
Journal of Human Genetics | 2002年 / 47卷
关键词：
Key words Barth syndrome; TAZ (G4.5); Cardiomyopathy; 3-Methylglutaconic aciduria; Cyclic neutropenia;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, short stature, neutropenia, and 3-methylglutaconic aciduria. Mutations have been identified in the TAZ (G4.5) gene in patients with BTHS. This article presents a mutation analysis of this gene in a Japanese boy with cardiomyopathy with abnormal mitochondria, cyclic neutropenia, and 3-methylglutaconic aciduria (type 2). The analysis revealed a novel missense mutation (R94S) caused by a single nucleotide substitution (C-to-A) in this patient.
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页码：229 / 231
页数：2
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