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Article

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).

Frontiers in endocrinology - 1 Jan 2024

Manero-Azua Africa, Vado Yerai, Gonzàlez Morlà Judith, Mogas Eduard, Pereda Arrate, Perez de Nanclares Guiomar

Abstract excerpt

Objective: To identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3. Design: Imprinting is an epigenetic mechanism that allows the regulation of gene expression. The GNAS locus is one of the loci within the genome that is imprinted. When the methylation pattern is affected, it causes pseudohypoparathyroidism type 1B (PHP1B) or inactivating PTH/PTHrP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GNAS gene

Share to Genomic Imprinting

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 39736869
DOI: 10.3389/fendo.2024.1505244
PMCID: PMC11682883

Genes

GNAS
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).PMID 39736869Read ↗

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GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?Semantic proximity Read ↗

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GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.Semantic proximity Read ↗

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