Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.

doi:10.1002/jbmr.3450

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Article

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2018

Hanna Patrick, Grybek Virginie, Perez de Nanclares Guiomar, Tran Léa C, de Sanctis Luisa, Elli Francesca, Errea Javier, Francou Bruno, Kamenicky Peter, Linglart Léa, Pereda Arrate, Rothenbuhler Anya, Tessaris Daniele, Thiele Susanne, Usardi Alessia, Shoemaker Ashley H, Kottler Marie-Laure, Jüppner Harald, Mantovani Giovanna, Linglart Agnès

Abstract excerpt

Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal methylation at maternal GNAS promoter(s), respectively. Adult PHP1A patients are reportedly obese and short, whereas most PPHP patients are born small. In addition to parathyroid hormone (PTH) resistance, PHP1A and PHP1B patients may display early-onset obesity....

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Identifiers

PMID: 29693731
DOI: 10.1002/jbmr.3450
PMCID: PMC6105438

Genes

GNAS
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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