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.File | Dimensione | Formato | |
---|---|---|---|
Contrò_Novel-ABCC6-Variant_2019.pdf
accesso aperto
Tipologia:
Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza:
Creative commons
Dimensione
875.7 kB
Formato
Adobe PDF
|
875.7 kB | Adobe PDF |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.