Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain

Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of...

Full description

Saved in:
Bibliographic Details
Published in:Clinical genetics 2020-05, Vol.97 (5), p.758-763
Main Authors: Sánchez‐Monteagudo, Ana, Álvarez‐Sauco, María, Sastre, Isabel, Martínez‐Torres, Irene, Lupo, Vincenzo, Berenguer, Marina, Espinós, Carmen
Format: Article
Language:English
Subjects:
ATP7B gene
CCDC115 gene
Diagnosis
Exons
Genetic analysis
genetic diagnosis
Genetic screening
Glycosylation
Hereditary diseases
Introns
Mutation
Phenotypes
targeted next‐generation sequencing
whole exome sequencing
Wilson's disease
Wilson‐like phenotype
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD. Genetic analysis comprised from analysis of exons to WES (whole exome sequencing), including promoter, introns, UTRs (untranslated regions), besides of study of large deletions/duplications by MLPA (multiplex ligation‐dependent probe amplification). Biallelic ATP7B mutations were identified in 30 patients, so that four patients were analyzed using WES. Two affected siblings resulted to be compound heterozygous for mutations in CCDC115, which is involved in a form of congenital disorder of glycosylation. In sum, the majority of patients with a WD phenotype carry ATP7B mutations. However, if genetic diagnosis is not achieved, additional genes should be considered because other disorders may mimic WD.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13719