PuSH - Publication Server of Helmholtz Zentrum München: Uniparental disomy leads to a novel cause of MC2R-related familial glucocorticoid deficiency type 1.

Information

Clues to quality of journals

Open Access Policy of Helmholtz Association 2016

CC Licencences

Publication Metrics

Navigation

Home

Deutsch

Research

Advanced Search

Browse by ...

... HMGU-Authors/Consortia

... Organizational Structure

... Journal

... Publication Type

... Research Data

... Arbeitsgruppen

... Publication Year

Publication overview

Statistics

Statistics (last 5 years)

OA Publications

Publish

Submit Publication

Import publication from...

...EVA

Report missing publication

Highlights

Support & Contact

Contact persons

Help

Data protection

Helmholtz Open Science

JANE Journal Estimator

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Müller-Nedebock, A.C.* ; Wenzel, E. ; Pfäffle, R.*

Uniparental disomy leads to a novel cause of MC2R-related familial glucocorticoid deficiency type 1.

Eur. J. Endocrinol. 193, K5-K10 (2025)

DOI

PMC

Open Access Green as soon as Postprint is submitted to ZB.

Abstract
Metrics
Extra information

Familial Glucocorticoid Deficiency Type 1 (FGD1) is a rare autosomal recessive disease caused by pathogenic variants in the MC2R gene. This case report presents the first documented instance of FGD1 caused by a homozygous 1.421 kb deletion affecting the non-coding promoter region of MC2R. The patient, a 9-year-old girl, presented with severe cortisol insufficiency and hyperpigmentation starting at birth. Genetic testing initially missed the deletion, as standard whole-exome sequencing in 2016 did not include a copy number variation analysis. However, a whole-genome sequencing analysis in 2024 identified the deletion. The variant was inherited through paternal uniparental disomy (UPD), a rare genetic mechanism that caused the homozygous state. This case underscores the value of utilizing current genetic testing approaches, especially in cases where clinical features strongly suggest a genetic etiology despite inconclusive initial genetic testing results. Additionally, it highlights the need to consider non-coding regions and UPD in genetic diagnostics.

Impact Factor

Scopus SNIP

Altmetric

5.200

0.000