CLPB gene mutations analysis in a case of type 3-methylglutaconic aciduria.

Author: Rui DONG ¹ ; Kaihui ZHANG ; Yan HUANG ; Yue JIANG ; Yuqiang LYU ; Min GAO ; Zhongtao GAI ; Yi LIU
Author Information

1. Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(9):1014-1017
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To validate the diagnosis of an infant with elevated urine 3-methylglutaconic acid (3-MGA) through sequencing of the CLPB gene.
METHODS:Genomic DNA of the infant was sequenced by next generation sequencing (NGS), and candidate pathogenic variants were verified by Sanger sequencing and bioinformatics analysis.
RESULTS:NGS has revealed that the infant has carried a c.1085G>A (p.Arg362Gln) and a c.1700A>C (p.Tyr567Ser) of the CLPB gene, which were respectively inherited from her parents. Among these, c.1085G>A (p.Arg362Gln) is a novel variant which was unreported previously, and based on the ACMG guidelines, it was predicted to be a possible pathogenic variant.
CONCLUSION:Compound heterozygous variants c.1085G>A (p.Arg362Gln) and c.1700A>C (p.Tyr567Ser) of the CLPB gene probably underlay the disease in this infant. Genetic testing has confirmed the diagnosis.