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

ShuPing Liu, Ting Zeng, Cheng Luo, DanXia Peng, Xuan Xu, Qin Liu, Qiong Wu, Qin Lu, FuRong Huang

Frontiers in endocrinology 2023

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Melanocortin-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). We 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. We 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. Copyright © 2023 Liu, Zeng, Luo, Peng, Xu, Liu, Wu, Lu and Huang.

Citation

ShuPing Liu, Ting Zeng, Cheng Luo, DanXia Peng, Xuan Xu, Qin Liu, Qiong Wu, Qin Lu, FuRong Huang. A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report. Frontiers in endocrinology. 2023;14:1113234