A novel ABCC6 variant causative of pseudoxanthoma elasticum

被引：0

作者：

Gianluca Contrò

Rossana Tallerico

Vincenzo Dattilo

Fernanda Fabiani

Maria Vittoria Enzo

Uros Hladnik

Stefano Dastoli

Steven Paul Nisticò

Emma Colao

Nicola Perrotti

Rodolfo Iuliano

机构：

[1] University “Magna Graecia”,Medical Genetics Unit

[2] University “Magna Graecia”,Department of Health Sciences

[3] “Mauro Baschirotto” Institute for Rare Disease,Medical Genetics Unit

[4] University “Magna Graecia”,Dermatology Unit

来源：

Human Genome Variation | / 6卷

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摘要：

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.

引用

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