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

CASE REPORT

The proband, a 22-year-old primigravida, was referred to the Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania, at 13 weeks of gestation for genetic counseling because of a familial history of cardiomyopathy. She had three biological brothers. The first brother was healthy. The second brother was born after an uncomplicated pregnancy; on the 9th day after birth, the boy became febrile and was referred to the intensive care unit because of impaired cardiac function, where he was diagnosed with endocardial fibroelas-tosis. Later, the diagnosis was changed to myocarditis. At 4 months of age the boy repeatedly showed symptoms of fever and worsened symptoms of myocarditis. He subsequently died due to cardiac failure at 6 months of age. The third brother of the proband was also born after a normal pregnancy and was diagnosed with cardiac insufficiency due to endocardial fibroelastosis on the 3rd week of life after the episode of fever and cyanosis. Since the heart function was improving significantly, the diagnosis was changed to myocarditis. He then developed dilated cardio-myopathy at 5 months of age. Subsequently, at 1 year and 4 months of age the boy presented with an episode of impaired consciousness and convulsion. At that time the boy was diagnosed with hypoglycemia, cardiac insufficiency, repeated episodes of neutropenia, growth retardation and hypotonia. Congenital metabolic disorder was suspected. Biochemical findings included excess amounts of 3-meth-ylglutaric and 3-methylglutaconic acids in urine and low free carnitine in blood. As a result, based on clinical, biochemical findings and family history, BTHS was diagnosed. Genetic testing was not performed at that time. The boy died at 11 years of age of cardiopulmonary insufficiency due to severe pulmonary infection. The first trimester ultrasound performed on our proband demonstrated the male sex of the fetus and revealed no markers of chromosomal abnormalities and no fetal pathology. Chorionic villus sampling was performed and molecular tests were carried out. There were no aneuploidies detected and sex chromosomes were XY. As the clinical diagnosis of BTHS was defined for our probandís third brother and the family history highly suggested an X-linked disorder, genetic analysis was performed on the probandís fetus. Genetic tests were initiated in this order because the purpose of genetic counseling was to investigate if the probandís fetus had BTHS. Furthermore, as mentioned previously, the third brother of our proband died 10 years ago and it was not possible to start genetic testing on the deceased patient. Informed consent was obtained from all family members who participated in the molecular analyses study.



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