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Isolating Potentiated Hsp104 Variants Using Yeast Proteinopathy Models
Published on: November 11, 2014
A novel ABCC6 variant causative of pseudoxanthoma elasticum
Gianluca Contrò1, Rossana Tallerico1,2, Vincenzo Dattilo1,2
11Medical Genetics Unit, University "Magna Graecia", Catanzaro, Italy.
Abstract:
Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of ABCC6 revealed a novel homozygous c.4041G > A variant located in the last position of exon 28 that compromises the splicing donor site, resulting in a shorter messenger RNA. The deletion impairs the nucleotide-binding fold region, which is crucial for ABCC6 function.
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