Splicing mutation in gene leading to exon skipping and Barth syndrome.

Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated.

Novel desmoplakin mutations in familial Carvajal syndrome.

Desmoplakin is encoded by gene, whose altered function leads to skin and hair abnormalities, and heart diseases. The whole triad of these traits characterizes the Carvajal syndrome (CS). CS is an autosomal recessive genetic disorder, mapping on chromosome 6q24 and caused by mutations in DSP gene.