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- Title
A novel ABCC6 variant causative of pseudoxanthoma elasticum.
- Authors
Contrò, Gianluca; Tallerico, Rossana; Dattilo, Vincenzo; Fabiani, Fernanda; Enzo, Maria Vittoria; Hladnik, Uros; Dastoli, Stefano; Nisticò, Steven Paul; Colao, Emma; Perrotti, Nicola; Iuliano, Rodolfo
- 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.
- Subjects
PSEUDOXANTHOMA elasticum; ATP-binding cassette transporters; GENETIC mutation; NUCLEOTIDES; CLINICAL trials
- Publication
Human Genome Variation, 2019, Vol 6, Issue 1, pN.PAG
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-019-0062-x