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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CONCLUSIONS
A novel mutation in the TAZ gene was identified prenatally
in a family with a clinical diagnosis of BTHS. The
diagnosis for the proband’s third brother was confirmed by
molecular genetic testing and the second brother’s underlying
cause of early death was revealed. Mutational analysis
offers the possibility of prenatal genetic counseling and
preimplantation genetic diagnosis for the family.
Declaration of Interest. The authors report no conflicts
of interest. The authors alone are responsible for the
content and writing of this article.
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