Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII.
10.3760/cma.j.issn.1003-9406.2020.04.014
- Author:
Kaihui ZHANG
1
;
Yan HUANG
;
Yuqiang LYU
;
Min GAO
;
Jian MA
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Case Reports
- MeSH:
Endopeptidase Clp;
genetics;
Female;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Infant;
Metabolism, Inborn Errors;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(4):423-426
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and genetic characteristics of an infant girl featuring comprehensive developmental backwardness.
METHODS:The patient was subjected to clinical examination, gas chromatography mass spectrometry and next-generation sequencing (NGS).
RESULTS:The child was insensitive to sound, could not turn over, raise head, laugh or recognize his mother. Laboratory tests were all normal, but metabolic analysis suggested 3-methylglutaconic aciduria due to elevated 3-methylglutaconic acid and 3-methylglutaric acid. NGS has detected two compound heterozygous CLPB variants in the child, namely c.1085G>A and c.1700A>C, which were respectively inherited from her father and mother. Bioinformatic analysis predicted both variants to be pathogenic. The patient was diagnosed with 3-methylglutaconic aciduria type VII (MGCA7).
CONCLUSION:The MGCA7 in the child was probably caused by CLPB gene variants. NGS has provided a powerful diagnostic tool for this rare disorder.
