Mustafa Alqbandi

Homozygous Nonsense DSP Variants Selectively Affecting Desmoplakin I Cause Carvajal Syndrome in a Consanguineous Arabian Family with Four Affected Female Siblings

A novel homozygous nonsense variant in the transcript 1-specific region of DSP causing Carvajal syndrome is described, characterized by severe biventricular ACM, epidermolytic palmoplantar keratoderma, and woolly hair, in a consanguineous Arabian family with four affected sisters.