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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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 proband’s third brother and the family history highly
suggested an X-linked disorder, genetic analysis was performed
on the proband’s fetus. Genetic tests were initiated
in this order because the purpose of genetic counseling
was to investigate if the proband’s 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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