Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I.
10.3760/cma.j.cn511374-20210702-00566
- VernacularTitle:瓜氨酸血症I型三个家系的临床及
ASS1基因变异分析
- Author:
Rui DONG
1
;
Kaihui ZHANG
;
Hui GUO
;
Guangye ZHANG
;
Yuqiang LYU
;
Min GAO
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Institute of Pediatric Research, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Argininosuccinate Synthase/genetics*;
Citrullinemia/genetics*;
East Asian People;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2023;40(11):1345-1349
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Citrullinemia type I (CTLN1).
METHODS:Three children diagnosed at the Children's Hospital Affiliated to Shandong University from 2017 to 2020 were selected as the study subjects. Genomic DNA was extracted from peripheral blood samples of the probands and their parents. Next generation sequencing (NGS) was carried out to detect pathological variants of the probands. Sanger sequencing was used for validating the candidate variant among the pedigrees.
RESULTS:The probands have respectively carried compound heterozygous variants of c.207_209delGGA and c.1168G>A, c.349G>A and c.364-1G>A, c.470G>A and c.970G>A of the ASS1 gene, which were respectively inherited from their parents.
CONCLUSION:The newly discovered c.207_209delGGA and c.364-1G>A variants have enriched the mutational spectrum of the ASS1 gene. And the mutation spectrum of Chinese CTLN1 patients is heterogeneous.
