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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
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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
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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
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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
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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
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Utkus, A
 oraz 
V Kučinskas

V Kučinskas

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Kučinskas, V
  
31 gru 2016
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome's Cover Image
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Kategoria artykułu: Case Report
Data publikacji: 31 gru 2016
Zakres stron: 95 - 100
DOI: https://doi.org/10.1515/bjmg-2016-0043
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© 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.

Język:
Angielski
Częstotliwość wydawania:
2 razy w roku
Dziedziny czasopisma:
Medycyna, Podstawowe nauki medyczne, Podstawowe nauki medyczne, inne
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