Avdjieva-Tzavella D M, Todorova A P, Ivanova M B, Yordanova I T, Todorov T P, Litvinenko I O, Dasheva-Dimitrova A T, Tincheva R S
Genet Couns. 2016;27(4):495-501.
Barth syndrome (BTHS) is an X-linked recessive disease caused by mutations in tafazzin gene (TAZ) which lead to cardiolipin deficiency and mitochondrial dysfunction. Male patients have variable clinical findings, including cardiomyopathy, skeletal myopathy, prepubertal short stature, neutropenia and 3-methylglutaconic aciduria. Female carriers are usually asymptomatic. We report a novel TAZ gene mutation in male and female siblings with left ventricular noncompaction and hypotonia. Additionally, the brother presented an intermittent neutropenia and increased urinary levels of 3-methylglutaconic and 3-methylglutaric acid. The molecular genetic testing showed that both siblings carry the mutation: c.253insC, p.(Arg85Profs*54) in exon 3 of the TAZ gene. This article presents the first case of BTHS in a heterozygous female patient with normal karyotype.
巴斯综合征（BTHS）是一种X连锁隐性疾病，由tafazzin基因（TAZ）突变引起，该突变导致心磷脂缺乏和线粒体功能障碍。男性患者有多种临床表现，包括心肌病、骨骼肌病、青春期前身材矮小、中性粒细胞减少和3-甲基戊二酸尿症。女性携带者通常无症状。我们报告了一对患有左心室心肌致密化不全和肌张力减退的男性和女性同胞中的一种新的TAZ基因突变。此外，哥哥表现为间歇性中性粒细胞减少，尿中3-甲基戊二酸和3-甲基谷氨酸水平升高。分子遗传学检测显示，这对同胞均携带该突变：TAZ基因第3外显子中的c.253insC，p.（Arg85Profs*54）。本文报道了首例核型正常的杂合子女性巴斯综合征患者。
