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Case Reports
. 2017 Mar 8;19(2):95-100.
doi: 10.1515/bjmg-2016-0043. eCollection 2016 Dec 1.

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

M Bakšienė  1 , E Benušienė  1 , A Morkūnienė  1 , L Ambrozaitytė  1 , A Utkus  1 , V Kučinskas  1
Affiliations
Case Reports

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

M Bakšienė et al. Balkan J Med Genet. .

Abstract

Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 of the TAZ gene that was detected prenatally.

Keywords: 3-Methylglutaconin aciduria; Barth Syndrome (BTHS); Neutropenia; Tafazzin (TAZ) gene; cardiomyopathy.

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Conflict of interest statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Figures

Figure 1
Figure 1
Pedigree of the studied family
Figure 2
Figure 2
The TAZ sequencing electrophoregrams showing position c.285-1 of the TAZ sequence (NM_000116) (indicated by an arrow). (A) The results in the fetus and proband’s sibling: hemizygous mutation (c.[285-1G>C];[0]); A1: forward strand; A2: reverse strand. (B) The fragments of the TAZ gene sequences of the proband, mother and maternal grandmother: heterozygous form (c.[285-1G>C];[=]); B1: forward strand; B2: reverse strand.
Figure 3
Figure 3
The location of the c.285-1G>C mutation of the TAZ gene and its effect on splicing.
See this image and copyright information in PMC

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