FEMALE AND MALE CARRIERS OF TAZ MUTATIONS
NEED TO BE THOROUGHLY INVESTIGATED Finsterer J*, Stollberger C *Corresponding Author: Josef Finsterer, M.D., Ph.D., Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria.
Tel: +43-1-71165. Fax. +43-1-4781711. E-mail: fifigs1@yahoo.de page: 91
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A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME
Author: Bakšienė M*, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V
Corresponding Author: Marija Bakšienė, M.D., Centre for Medical Genetics, Vilnius University Hospital Santaros Klinikos,
Santariškių 2, LT-08406 Vilnius, Lithuania. E-mail: m.baksiene@gmail.com
Dear Editor,
This is a response to Drs. Josef Finsterer and Claudia
Stöllberger’ Letter to the Editor expressing his observations
and concerns about the article “A Novel Intronic
Splice Site Taffazin Gene Mutation Detected Prenatally
in a Family with Barth Syndrome.”
We would like to remind the readers that the affected
family consisted of four children: the first boy was healthy,
the second brother died at 6 months of age due to cardiac
failure, the third brother was diagnosed with Barth syndrome
and died at 11 years of age; the youngest sister is
the carrier of the mutation. To investigate the case further,
we managed to retrieve archived medical records of the
deceased third brother. Provided below is the additional
medical evidence we collected.
The first comment queried whether the two manifesting
brothers of the index case had been investigated for
LVHT (left ventricular hypertrabeculation, also known
as noncompaction). Prenatal ultrasound did not show any
cardiac pathology for both brothers. However, that may
have been due to the poor quality of ultrasound machines
available at local medical care centers and insufficient
experience of the ultrasound operators at the time (1991
and 1998).
Cardiovascular ultrasound was performed after birth
and both affected boys were diagnosed with endocardial
fibroelastosis within the first month of their lives. Due to
very good clinical response to treatment, the diagnosis was
changed to congenital myocarditis for both of them. The
therapy applied for myocarditis for the second brother of
the affected family is not known. He died at 6 months of age. The autopsy reported undifferentiated cardiomyopathy.
As for the third brother of the family, he was treated
with digoxin, enalapril, diuretics and prednisolone. Both
children had regular cardiovascular ultrasound tests and
there was no suspicion of LVHT. The family history was
negative for complications of LVHT, such as heart failure,
ischemic cerebral stroke, arrhythmias, or sudden cardiac
death. Endomyocardial biopsy and cardiac magnetic resonance
imaging (MRI) with contrast medium were not
performed on either of the affected brothers according to
the medical archives.
Another concern was regarding female carriers and
whether they had developed clinical manifestations of the
disease. As it was reported in the article, the proband and
her mother had normal electrocardiograms and echocardiograms
and no history of cardiac disease. The maternal
grandmother of the proband, currently 85 years of age,
has primary hypertension, coronary heart disease, chronic
atrial fibrillation, type II diabetes and hypertensive and
diabetic nephropathy.
Lastly, Dr. Josef Finsterer’s letter inquired whether
any additional manifestions of Barth syndrome had been
found in the clinically manifesting carriers of the TAZ
mutation in the described family. In addition to dilated
cardiomyopathy, hypoglycaemia, cardiac insufficiency,
repeated episodes of neutropenia, growth retardation
and hypotonia, excess amounts of 3-methylglutaric and
3-methylglutaconic acids in urine and low free carnitine
in blood, the third boy of the family was diagnosed with
recurrent infectious oral ulcers, combined specific developmental
disorder, refractory generalized epilepsy, sleeping
disorder, metabolic encephalopathy, spastic quadriparesis,
which progressed to quadriplegia.
We hope the additional medical observations described
in this response will prove meaningful to the interested
medical community.
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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