Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene.
10.3760/cma.j.cn511374-20220314-00165
- VernacularTitle:CLPB基因新变异所致3-甲基戊烯二酸尿症Ⅶ型患儿1例的临床特征和遗传学分析
- Author:
Pengwu LIN
1
;
Xuan FENG
;
Shengju HAO
;
Ling HUI
;
Chuan ZHANG
;
Bingbo ZHOU
;
Lian WANG
;
Jingyun SHI
;
Qinghua ZHANG
Author Information
1. Medical Genetics Center, Gansu Provincial Maternity and Child Health Care Hospital, Lanzhou, Gansu 730050, China. 1432337130@qq.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Infant, Newborn;
Pregnancy;
Base Sequence;
Metabolism, Inborn Errors/diagnosis*;
Mutation;
Neutropenia/genetics*;
Sequence Analysis, DNA
- From:
Chinese Journal of Medical Genetics
2023;40(11):1377-1381
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII.
METHODS:A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected. The child and her parents were subjected to whole exome sequencing.
RESULTS:The child, a female neonate, had presented mainly with intermittent skin cyanosis, convulsions, hypomagnesemia, apnea, neutropenia after birth. Her urine 3-methylpentenedioic acid has increased to 17.53 μmol/L. DNA sequencing revealed that she has harbored compound heterozygous variants of the CLPB gene, namely c.1016delT (p.L339Rfs*5) and c.1087A>G (p.R363G), which were respectively inherited from her mother and father. Both variants were unreported previously. Based on the standards from the American College of Medical Genetics and Genomics (ACMG), the variants were respectively predicted to be pathogenic and likely pathogenic.
CONCLUSION:The child was diagnosed with 3-methylglutenedioic aciduria type VII. Discovery of the c.1016delT and c.1087A>G variants has enriched the mutational spectrum of the CLPB gene.
