Application and the limitation of next generation sequencing for the diagnosis of methylmalonic acidemia.
10.3760/cma.j.cn511374-20200321-00187
- Author:
Lisa SU
1
;
Shuang HU
;
Xiangdong KONG
Author Information
1. Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Amino Acid Metabolism, Inborn Errors/genetics*;
Female;
Heterozygote;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
Oxidoreductases;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(8):740-744
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To identify genetic variants among patients with methylmalonic acidemia and provide genetic evidence for prenatal diagnosis.
METHODS:Thirty-one probands and their parents were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing.
RESULTS:25 probands or their parents were found to harbor previously known pathogenic or likely pathogenic variants, and three probands were found to carry heterozygous MMACHC exonic deletion. The overall diagnostic yield was 90.32%.
CONCLUSION:NGS can improve the detection rate for methylmalonic acidemia for its accuracy and efficiency, yet the detection of exonic deletion is required to further improve the diagnostic yield. The identification of specific variants provided evidence for prenatal diagnosis.
