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

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.

SUBMITTER: Baksiene M

PROVIDER: S-EPMC5343338 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature

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

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

Balkan journal of medical genetics : BJMG 20161201 2

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. ...[more]

PMID: 28289596

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