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Article

Novel Mutations in the MC2R Gene in a Patient With Familial Glucocorticoid Deficiency (FGD): A Case Report and Functional Study.

Molecular genetics & genomic medicine - 1 Jul 2026

Zhen Ni, Tao Yonghui, Li Chuanyin, Lu Wenli

Abstract excerpt

PURPOSE: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to adrenocorticotropic hormone (ACTH), leading to isolated glucocorticoid deficiency. This study aims to identify the genetic basis of FGD in a Chinese patient and investigate the functional consequences of the detected MC2R mutations. METHODS: Whole-exome sequencing was performed to detect...

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Identifiers

PMID: 42458748
DOI: 10.1002/mgg3.70242
PMCID: PMC13373312

Genes

MC2R

Variants

Provenance

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