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

CONCLUSIONS

A novel mutation in the TAZ gene was identified prenatally in a family with a clinical diagnosis of BTHS. The diagnosis for the probandís third brother was confirmed by molecular genetic testing and the second brotherís 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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