Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene.
10.3760/cma.j.cn511374-20220509-00315
- Author:
Jing GAO
1
;
Xiaojing LIU
;
Yan CUI
;
Bingyan CAO
;
Yongxing CHEN
;
Haiyan WEI
;
Haihua YANG
Author Information
1. Department of Endocrinology and Inborn Error of Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China. haiyanwei2009@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Child;
Glucocorticoids/therapeutic use*;
Receptor, Melanocortin, Type 2/genetics*;
Retrospective Studies;
Adrenal Insufficiency/genetics*;
Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(12):1526-1530
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To improve the recognition of Familial glucocorticoid deficiency type 1 (FGD1) due to variants of melanocortin 2 receptor (MC2R) gene.
METHODS:Two children with FGD1 diagnosed at the Henan Children's Hospital respectively in 2019 and 2021 were selected as the study subjects. Clinical data, treatment, follow-up and results of genetic testing were collected and retrospectively analyzed.
RESULTS:Whole exome sequencing revealed that both children had harbored compound heterozygous variants of the MC2R gene, including c.433C>T (p.R145C) and c.710T>C (p.L237P) in child 1, and c.145delG (p.V49Cfs*35) and c.307G>A (p.D103N) in child 2, among which c.710T>C (p.L237P) and c.145delG (p.V49Cfs*35) were unreported previously.
CONCLUSION:FGD1 is clinically rare, and genetic sequencing is crucial for the definite diagnosis. Discovery of the and novel variants has enriched the mutational spectrum of the FGD1 gene.
