Identification of pathogenic variations in a Chinese pedigress affected with Wilson’s disease
- VernacularTitle: 1例早发脑型肝豆状核变性家系ATP7B基因突变和临床表型分析
- Author:
Nannan QIAN
1
;
Jiuxiang WANG
1
;
Pei PEI
1
Author Information
- Publication Type:Journal Article
- Keywords: Wilson disease; ATP7B; Neurological presentation
- From: Journal of Apoplexy and Nervous Diseases 2021;38(11):1017-1019
- CountryChina
- Language:Chinese
- Abstract: To determine the mutational characterization of Ptype ATP7B gene in a Chinese family with neurological Wilson disease （WD）.Methods Genomic DNA was isolated from venous blood samples of all available family members. The exons and exon-intron boundaries of ATP7B in four members were analyzed by Sanger sequencing. Results The proband was presented with memory loss，unclear speech and involuntary shaking，k-f ring with normal liver function. By direct Sanger sequencing of ATP7B，the proband have carried two heterozygous missense mutations c.2333G>T p.R778L and c.2975C>T p.P992 L，which were derived her mother and father respectively. The younger brother of the proband carried c.2333G>T p.R778L with nomal presentation. Conclusion We identified two heterozygous missense mutations （c.2120A>G p.Q707R and c.2333G>T p.R778L） were this neurological WD causative sites，which have important guiding significance for the risk of offspring recurrence in this family.
- Full text:20240728230127269201例早发脑型肝豆状核变性家系ATP7B基因突变和临床表型分析.pdf
