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Article

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

The Journal of clinical endocrinology and metabolism - 1 Apr 2019

Biebermann Heike, Kleinau Gunnar, Schnabel Dirk, Bockenhauer Detlef, Wilson Louise C, Tully Ian, Kiff Sarah, Scheerer Patrick, Reyes Monica, Zschunke Sarah, Gregory John W, Allgrove Jeremy, Krude Heiko, Mannstadt Michael, Gardella Thomas J, Dattani Mehul, Jüppner Harald, Grüters Annette

Abstract excerpt

CONTEXT: The α subunit of the stimulatory G protein (Gαs) links numerous receptors to adenylyl cyclase. Gαs, encoded by GNAS, is expressed predominantly from the maternal allele in certain tissues. Thus, maternal heterozygous loss-of-function mutations cause hormonal resistance, as in pseudohypoparathyroidism type Ia, whereas somatic gain-of-function mutations cause hormone-independent endocrine stimulation, as...

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Source

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Identifiers

PMID: 30312418
DOI: 10.1210/jc.2018-01250
PMCID: PMC6380466

Genes

GNAS
LHCGR
PTH1R
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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