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
Tallerico R;Dattilo V;Dastoli S;NISTICO' SP;Perrotti N;Iuliano R.
2019-01-01
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 in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
