Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describetwo siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis ofABCC6 revealed a novel homozygous c.4041G > A variant located in the last position of exon 28 that compromises thesplicing donor site, resulting in a shorter messenger RNA. The deletion impairs the nucleotide-binding fold region,which is crucial for ABCC6 function.

A novel ABCC6 variant causative of pseudoxanthoma elasticum / Contrò, G; Tallerico, R; Dattilo, V; Fabiani, F; Enzo, Mv; Hladnik, U; Dastoli, S; Nistico', Sp; Colao, E; Perrotti, N; Iuliano, R.. - In: HUMAN GENOME VARIATION. - ISSN 2054-345X. - 6:(2019). [10.1038/s41439-019-0062-x]

A novel ABCC6 variant causative of pseudoxanthoma elasticum

NISTICO' SP;
2019

Abstract

Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describetwo siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis ofABCC6 revealed a novel homozygous c.4041G > A variant located in the last position of exon 28 that compromises thesplicing donor site, resulting in a shorter messenger RNA. The deletion impairs the nucleotide-binding fold region,which is crucial for ABCC6 function.
2019
ABCC6 variant; pseudoxanthoma elasticum; dermatology
01 Pubblicazione su rivista::01a Articolo in rivista
A novel ABCC6 variant causative of pseudoxanthoma elasticum / Contrò, G; Tallerico, R; Dattilo, V; Fabiani, F; Enzo, Mv; Hladnik, U; Dastoli, S; Nistico', Sp; Colao, E; Perrotti, N; Iuliano, R.. - In: HUMAN GENOME VARIATION. - ISSN 2054-345X. - 6:(2019). [10.1038/s41439-019-0062-x]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1687138
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