Balkan Journal of Medical Genetics (Dec 2016)

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

  • Bakšienė M,
  • Benušienė E,
  • Morkūnienė A,
  • Ambrozaitytė L,
  • Utkus A,
  • Kučinskas V

DOI
https://doi.org/10.1515/bjmg-2016-0043
Journal volume & issue
Vol. 19, no. 2
pp. 95 – 100

Abstract

Read online

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.

Keywords