Analysis of GCDH gene variant in a child with Glutaric aciduria type I.
10.3760/cma.j.cn511374-20200705-00494
- Author:
Hanjun YIN
1
;
Qiong XUE
;
Suyue ZHU
Author Information
1. Department of Pediatrics, Suqian Hospital of the Nanjing Drum Tower Hospital Group (The Affiliated Suqian Hospital of Xuzhou Medical University), Suqian, Jiangsu 223800, China. zsyzsy7878@163.com.
- Publication Type:Journal Article
- MeSH:
Amino Acid Metabolism, Inborn Errors/genetics*;
Brain Diseases, Metabolic/genetics*;
Child;
Female;
Glutaryl-CoA Dehydrogenase/genetics*;
High-Throughput Nucleotide Sequencing;
Humans;
Infant, Newborn;
Mutation
- From:
Chinese Journal of Medical Genetics
2022;39(1):39-42
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).
METHODS:Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.
RESULTS:The proband was found to harbor compound heterozygous variants of the GCDH gene, namely c.523G>A and c.1190T>C, which was derived from her father and mother, respectively.
CONCLUSION:The compound heterozygous variants of the GCDH gene probably underlay the GA-I in the patient.
