[两名因MC2R基因变异导致1型家族性糖皮质激素缺乏症儿童的临床特征及基因分析]
[Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene].
作者信息
Gao Jing, Liu Xiaojing, Cui Yan, Cao Bingyan, Chen Yongxing, Wei Haiyan, Yang Haihua
机构信息
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.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1526-1530. doi: 10.3760/cma.j.cn511374-20220509-00315.
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.V49Cfs35) and c.307G>A (p.D103N) in child 2, among which c.710T>C (p.L237P) and c.145delG (p.V49Cfs35) 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.
目的
提高对因促黑素细胞激素2受体（MC2R）基因变异所致的1型家族性糖皮质激素缺乏症（FGD1）的认识。
方法
选取2019年和2021年分别在河南省儿童医院确诊的2例FGD1患儿作为研究对象。收集临床资料、治疗情况、随访情况及基因检测结果并进行回顾性分析。
结果
全外显子组测序显示，2例患儿均携带MC2R基因的复合杂合变异，患儿1为c.433C>T（p.R145C）和c.710T>C（p.L237P），患儿2为c.145delG（p.V49Cfs35）和c.307G>A（p.D103N），其中c.710T>C（p.L237P）和c.145delG（p.V49Cfs35）此前未见报道。
结论
FGD1临床罕见，基因测序对明确诊断至关重要。新变异的发现丰富了FGD1基因的突变谱。
Zotero 插件