在一个患有巴斯综合征的家族中产前检测到一种新的内含子剪接位点基因突变。
A novel intronic splice site gene mutation detected prenatally in a family with Barth syndrome.
作者信息
Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V
机构信息
Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania; Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
出版信息
Balkan J Med Genet. 2017 Mar 8;19(2):95-100. doi: 10.1515/bjmg-2016-0043. eCollection 2016 Dec 1.
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin () gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 of the gene that was detected prenatally.
巴斯综合征（BTHS）是一种罕见的X连锁疾病，其特征为扩张型心肌病、近端骨骼肌病和周期性中性粒细胞减少症。它由位于Xq28的tafazzin（）基因中的各种突变引起，这些突变导致心磷脂重塑以及线粒体稳定性和能量产生异常。在此，我们报告了在产前检测到的该基因第3内含子中的一种新型c.285-1G>C剪接位点突变。
Zotero 插件