Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants ofMC2R gene
高静 1刘晓景 1崔岩 1曹冰燕 2陈永兴 1卫海燕 1杨海花 1鞠翠钰
扫码查看
点击上方二维码区域，可以放大扫码查看
作者信息
1. 1郑州大学附属儿童医院 河南省儿童医院 郑州儿童医院内分泌遗传代谢科，郑州 450018
2. 2国家儿童医学中心 北京儿童医院内分泌遗传代谢科，北京 100045
折叠
摘要
目的 提高临床医师对黑皮质素2受体(MC2R)基因变异导致的家族性糖皮质激素缺乏症1型(FGD1)的认识，减少漏诊与误诊。 方法 回顾性分析2019年至2021年于河南省儿童医院收治的2例FGD1患儿的临床资料、基因检测结果、治疗和随访结果。 结果 全外显子组测序结果提示患儿1携带MC2R基因c.433C>T(p.R145C)与c.710T>C(p.L237P)复合杂合变异，患儿2携带MC2R基因c.145delG(p.V49Cfs*35)和c.307G>A(p.D103N)复合杂合变异，其中c.710T>C(p.L237P)与c.145delG(p.V49Cfs*35)变异为新发现的变异位点。 结论 FGD1临床罕见，基因检测是确诊的关键。新变异位点的检出丰富了MC2R基因的变异谱。 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.
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.
万方数据