A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report

被引：1

作者：

Liu, ShuPing ^{[1
]}

Zeng, Ting ^{[2
]}

Luo, Cheng ^{[1
]}

Peng, DanXia ^{[1
]}

Xu, Xuan ^{[1
]}

Liu, Qin ^{[1
]}

Wu, Qiong ^{[1
]}

Lu, Qin ^{[3
]}

Huang, FuRong ^{[1
]}

机构：

[1] Hunan Normal Univ, Affiliated Hosp 1, Hunan Prov Peoples Hosp, Dept Childrens Med Ctr, Changsha, Hunan, Peoples R China

[2] Liuzhou Matern & Child Healthcare Hosp, Dept Childrens Hlth Care, Liuzhou, Guangxi, Peoples R China

[3] GeneMind Biosci Co Ltd, Dept Appl & Translat Med, Shenzhen, Peoples R China

来源：

FRONTIERS IN ENDOCRINOLOGY | 2023年 / 14卷

关键词：

FGD1; MC2R; homozygous mutation; Chinese siblings; ACTH resistance; ADRENOCORTICOTROPIN RECEPTOR GENE; TALL STATURE; MUTATIONS; ACTH; BINDING; FGD;

D O I：

10.3389/fendo.2023.1113234

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

BackgroundMelanocortin-2 receptor (MC2R), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in MC2R are associated with family glucocorticoid deficiency 1 (FGD1). Case presentationWe first reported a Chinese family with two affected siblings with a homozygotic variant of c.712C>T/p.H238Y in MC2R, presenting with skin hyperpigmentation, hyperbilirubinemia, and tall stature. These individuals showed novel clinical features, including congenital heart defects, not been found in other FGD1 patients. ConclusionsWe reported a Chinese family with affected siblings having a homozygotic variant of c.712C>T/p.H238Y in MC2R.Our report may expand the genetic and clinical spectrum of FGD1.

引用

页数：5

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