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
*Corresponding Author: Marija Bakšienė, M.D., Department of Human and Medical Genetics, Vilnius University,
Santarişkių Str. 2, LT-08861 Vilnius, Lithuania. Tel: +3702365116. E-mail: m.baksiene@gmail. com
page: 95
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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.
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