Balkan Journal of Medical Genetics

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

INTRODUCTION

Barth syndrome (BTHS, OMIM 302060) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia and was first described in 1983 by Barth et al. [1]. The incidence of BTHS is about 1 in 300,000-400,000 births [2]. It is also presented with organic aciduria, particularly excess of 3-methylglutaconic acid [1,3]. The excretion of 3-methylglutaconic acid in urine can be highly variable and is often intermittent. At the moment, 3-methylglutaconic acid is a biochemical marker for mitochondrial dysfunction of still unknown origin [4]. Less common features of the disease include hypertrophic cardiomyopathy, isolated left ventricular noncompaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia and growth delay [5,6]. The main cause of death in infants with BTHS is either heart failure or sepsis due to neutropenia [1,2,5]. Barth syndrome is caused by various mutations in the tafazzin (TAZ, previously termed G4.5) gene [7], comprising 11 exons and located on Xq28 [8,9]. This gene encodes a protein tafazzin that plays an important role in remodelling of cardiolipin and phosphatidylglycerol structure [1]. Cardiolipin is a component of the inner mitochondrial membrane. It stabilizes highly ordered respiratory chain supercomplexes and optimises energy production in mitochondria [10]. Studies carried out on a BTHS zebrafish model suggest that the expression of tafazzins is both tissue-specific and age-dependent, and plays an essential role in cardiac development and function [11,12]. We report a novel splice site mutation in intron 3 of the TAZ gene in this study.

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