A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome-Reference-Cited by-同舟云学术

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Published:2016-12-01 Issue:2 Volume:19 Page:95-100
ISSN:1311-0160
Container-title:Balkan Journal of Medical Genetics
language:en
Short-container-title:

Author:

Bakšienė M¹²,Benušienė E¹²,Morkūnienė A¹²,Ambrozaitytė L¹²,Utkus A¹²,Kučinskas V¹²

Affiliation:

1. Center for Medical Genetics , Vilnius University Hospital Santariškių Klinikos , Vilnius , Lithuania

2. Department of Human and Medical Genetics , Vilnius University , Vilnius , Lithuania

Abstract

Abstract 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 (TAZ) 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 TAZ gene that was detected prenatally.

Publisher

Walter de Gruyter GmbH

Subject

Genetics(clinical),Genetics

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