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

M Bakšienė; E Benušienė; A Morkūnienė; L Ambrozaitytė; A Utkus; V Kučinskas

doi:10.1515/bjmg-2016-0043

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

Balkan Journal of Medical Genetics

Volume 19 (2016): Issue 2 (December 2016)

By: M Bakšienė, E Benušienė, A Morkūnienė, L Ambrozaitytė, A Utkus and V Kučinskas

Open Access

|Dec 2016

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.

References

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Articles in this issue

DOI: https://doi.org/10.1515/bjmg-2016-0043 | Journal eISSN: 2199-5761 | Journal ISSN: 1311-0160

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Language: English

Page range: 95 - 100

Published on: Dec 31, 2016

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Barth Syndrome (BTHS),

cardiomyopathy,

Neutropenia,

3-Methylglutaconin aciduria,

Tafazzin (TAZ) gene

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2016 M Bakšienė, E Benušienė, A Morkūnienė, L Ambrozaitytė, A Utkus, V Kučinskas, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 19 (2016): Issue 2 (December 2016)