ATP7B Gene Variant Profile Identified by NGS in Wilson's Disease.
Fetal Pediatr Pathol
; 42(6): 891-900, 2023 Dec.
Article
en En
| MEDLINE
| ID: mdl-37737146
ABSTRACT
Background:
Wilson's disease (WD) is a copper metabolism disorder caused by ATP7B gene mutations and shows an autosomal recessive pattern of inheritance. We aimed to contribute to the mutation profile of ATP7B and show demographic and phenotypic differences in this study. Materials andmethods:
The clinical and demographic characteristics of patients who underwent ATP7B gene sequence analysis using next-generation sequencing were evaluated to improve genotype-phenotype correlation in WD.Results:
An uncertain significance (D563N) and seven likely pathogenic (Y532D, Y715Y, T977K, K1028*, E1086K, A1227Pfs*103, and E1242K) variants were identified as associated with WD. Uniparental disomy was detected in one case.Conclusion:
Our work expanded the ATP7B variant spectrum and pointed to clinical heterogeneity in ATP7B variants among patients with WD. All symptomatic patients had hepatic involvement and were clinically and/or genetically diagnosed with WD in the pediatric period. T977K, A1003V, H1069Q, E1086K, and N1270S variants were associated with hepatic failure.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Degeneración Hepatolenticular
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Fetal Pediatr Pathol
Asunto de la revista:
PATOLOGIA
/
PEDIATRIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Turquía