Genetic analysis of 21 cases of methylmalonic acidemia.
10.3760/cma.j.cn511374-20201218-00889
- VernacularTitle:21例甲基丙二酸血症患儿的基因变异分析
- Author:
Xing WANG
1
;
Xiaohong SUN
;
Shengju HAO
;
Furong LIU
;
Qinghua ZHANG
;
Lei ZHENG
;
Chuan ZHANG
Author Information
1. Center of Medical Genetics, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, Gansu 730030, China. zhangchuan0404@163.com.
- Publication Type:Journal Article
- MeSH:
Amino Acid Metabolism, Inborn Errors/genetics*;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
Oxidoreductases/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(4):362-365
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families.
METHODS:Next generation sequencing (panel) was used to detect the pathogenic variants underlying the disease.
RESULTS:In total 29 variant sites of MMUT, MMAA, MMUT were identified in the 21 patients, with common variants including c.323G>A (10%), c.917C>T (10%), c.984delC (10%) of MMUT gene, and c.609G>A (45%), c.80A>G (10%) , c.567dupT (10%) of MMACHC gene. Among these, c.2000A>G of MMUT, c.298G>T of MMACHC and c.734-7A>G of MMAA gene were unreported previously.
CONCLUSION:Genetic testing for MMA patients can clarify the cause of the disease and provide a basis for the clinical diagnosis. Discovery of novel variants has enriched the mutational spectrum of MMA.
