A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome

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 stabil...

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Detalles Bibliográficos
Autores principales: Bakšienė, M, Benušienė, E, Morkūnienė, A, Ambrozaitytė, L, Utkus, A, Kučinskas, V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343338/
https://www.ncbi.nlm.nih.gov/pubmed/28289596
http://dx.doi.org/10.1515/bjmg-2016-0043
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author Bakšienė, M
Benušienė, E
Morkūnienė, A
Ambrozaitytė, L
Utkus, A
Kučinskas, V
author_facet Bakšienė, M
Benušienė, E
Morkūnienė, A
Ambrozaitytė, L
Utkus, A
Kučinskas, V
author_sort Bakšienė, M
collection PubMed
description 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.
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spelling pubmed-53433382017-03-13 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 Balkan J Med Genet Case Report 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. De Gruyter 2016-12-31 /pmc/articles/PMC5343338/ /pubmed/28289596 http://dx.doi.org/10.1515/bjmg-2016-0043 Text en © 2016 Walter de Gruyter GmbH, Berlin/Boston
spellingShingle Case Report
Bakšienė, M
Benušienė, E
Morkūnienė, A
Ambrozaitytė, L
Utkus, A
Kučinskas, V
A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome
title A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome
title_full A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome
title_fullStr A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome
title_full_unstemmed A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome
title_short A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome
title_sort novel intronic splice site tafazzin gene mutation detected prenatally in a family with barth syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343338/
https://www.ncbi.nlm.nih.gov/pubmed/28289596
http://dx.doi.org/10.1515/bjmg-2016-0043
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