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

Front Endocrinol (Lausanne). 2023 Feb 24:14:1113234. doi: 10.3389/fendo.2023.1113234. eCollection 2023.

Abstract

Background: 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).

Case presentation: 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.

Conclusions: 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.

Keywords: ACTH resistance; Chinese siblings; FGD1; MC2R; homozygous mutation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • East Asian People
  • Glucocorticoids*
  • Humans
  • Mutation
  • Receptor, Melanocortin, Type 2* / genetics

Substances

  • Glucocorticoids
  • Receptor, Melanocortin, Type 2

Supplementary concepts

  • Familial Glucocorticoid Deficiency 1

Grants and funding

This work was supported by The General Program of Natural Science Foundation of Hunan Province of China (NO.2020JJ4409), The RenShu Program of Hunan Provincial People’s Hospital (NO.RS201914). Major Scientific and Technological Projects of Hunan Province for collaborative prevention and control of birth defects (NO.2019SK1014).