Open Access

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

M Bakšienė

M Bakšienė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
Search for this author on
Sciendo|Google Scholar
Bakšienė, M
, 
E Benušienė

E Benušienė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
Search for this author on
Sciendo|Google Scholar
Benušienė, E
, 
A Morkūnienė

A Morkūnienė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
Search for this author on
Sciendo|Google Scholar
Morkūnienė, A
, 
L Ambrozaitytė

L Ambrozaitytė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
Search for this author on
Sciendo|Google Scholar
Ambrozaitytė, L
, 
A Utkus

A Utkus

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
Search for this author on
Sciendo|Google Scholar
Utkus, A
 and 
V Kučinskas

V Kučinskas

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
Search for this author on
Sciendo|Google Scholar
Kučinskas, V
  
Dec 31, 2016
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome's Cover Image
About this article
Previous Article
Next Article
Cite
Download Cover
Article Category: Case Report
Published Online: Dec 31, 2016
Page range: 95 - 100
DOI: https://doi.org/10.1515/bjmg-2016-0043
Keywords
© 2016 Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V
This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, Basic Medical Science, other
Journal RSS Feed