Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease.
10.3760/cma.j.cn511374-20201231-00926
- VernacularTitle:75例肝型肝豆状核变性患儿的临床表型及
ATP7B基因变异分析
- Author:
Pan LIU
1
;
Fengyu CHE
;
Chang SHU
;
Yarong LI
;
Xiaoguai LIU
Author Information
1. Department of Infectious Disease, Xi' an Children' s Hospital, Xi' an, Shaanxi 710003, China. xiaoguai760725@126.com.
- Publication Type:Journal Article
- MeSH:
Copper-Transporting ATPases/genetics*;
Genotype;
Hepatolenticular Degeneration/genetics*;
Humans;
Mutation;
Phenotype;
Retrospective Studies
- From:
Chinese Journal of Medical Genetics
2022;39(4):357-361
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotypes and ATP7B gene variants among children patients with Wilson' s disease from Northwestern China.
METHODS:The clinical features and variants of the ATP7B gene among 75 children with hepatic Wilson' s disease were retrospectively analyzed.
RESULTS:Among the 75 cases, 4 were presymptomatic, 59 had isolated transaminase elevation, 12 had acute and/or chronic liver diseases. Nine children were found to harbor homozygous variants, 64 harbored compound heterozygous variants, and two only had heterozygous variants of the ATP7B gene. In total 49 variants were detected, with common variants including c.2333G>T (p.Arg778Leu), c.2621C>T (p.Ala874Val) and c.2975C>T (Pro992Leu), which yielded allelic frequencies of 28.7%, 12.7% and 9.3%, respectively. Six novel variants were detected, which included c.1908dupC (p.Asn637Glnfs*118), c.4179_4180insC (p.Pro1394Profs*15), c.1604A>G (p.Glu535Gly), c.2278C>T (p.Pro760Ser), c.3008C>A (p.Ala1003Glu) and c.3532A>C (p.Thr1178Pro). Except for c.1604A>G (p.Glu535Gly), the remainder five were all predicted to be likely pathogenic. No significant correlation was found between genotype and phenotype among the patients.
CONCLUSION:The common mutation types of the ATP7B gene among patients with hepatic Wilson disease in Northwestern China are c.2333G>T (p.Arg778Leu), c.2621C>T (p.Ala874Val) and c.2975C>T (p.Pro992Leu), there is no significant correlation between their genotypes and phenotypes.
