title: A novel intronic splice sitetafazzingene 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 theTAZgene that was detected prenatally.
authors.affiliation: Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania; Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: M
authors.initials: M
authors.lastname: Bakšienė
authors.affiliation: Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania; Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: E
authors.initials: E
authors.lastname: Benušienė
authors.affiliation: Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania; Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: A
authors.initials: A
authors.lastname: Morkūnienė
authors.affiliation: Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania; Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: L
authors.initials: L
authors.lastname: Ambrozaitytė
authors.affiliation: Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania; Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: A
authors.initials: A
authors.lastname: Utkus
authors.affiliation: Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania; Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: V
authors.initials: V
authors.lastname: Kučinskas
keywords: 3-Methylglutaconin aciduria; Barth Syndrome (BTHS); Neutropenia; Tafazzin (TAZ) gene; cardiomyopathy