A novel ABCC6 variant causative of pseudoxanthoma elasticum

Gianluca Contrò; Rossana Tallerico; Vincenzo Dattilo; Fernanda Fabiani; Maria Vittoria Enzo; Uros Hladnik; Stefano Dastoli; Steven Paul Nisticò; Emma Colao; Nicola Perrotti; Rodolfo Iuliano

doi:10.1038/s41439-019-0062-x

A novel ABCC6 variant causative of pseudoxanthoma elasticum

Hum Genome Var. 2019 Jun 20:6:30. doi: 10.1038/s41439-019-0062-x. eCollection 2019.

Authors

Gianluca Contrò^#¹, Rossana Tallerico^#^{1

2}, Vincenzo Dattilo^{1

2}, Fernanda Fabiani¹, Maria Vittoria Enzo³, Uros Hladnik³, Stefano Dastoli⁴, Steven Paul Nisticò^{2

4}, Emma Colao¹, Nicola Perrotti^{1

2}, Rodolfo Iuliano^{1

2}

Affiliations

¹ 1Medical Genetics Unit, University "Magna Graecia", Catanzaro, Italy.
² 2Department of Health Sciences, University "Magna Graecia", Catanzaro, Italy.
³ Medical Genetics Unit, "Mauro Baschirotto" Institute for Rare Disease, Vicenza, Italy.
⁴ 4Dermatology Unit, University "Magna Graecia", Catanzaro, Italy.

^# Contributed equally.

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.

Keywords: Diseases; Medical genetics.