Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib
Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky I, Tebben P, Jüppner H. Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e1610-e1619. PMID: 34791361, PMCID: PMC8947795, DOI: 10.1210/clinem/dgab830.Peer-Reviewed Original ResearchConceptsIntracytoplasmic sperm injectionGNAS differentially methylated regionsIn vitro fertilizationLoss of methylationPHP1B patientsGNAS methylationPseudohypoparathyroidism type Ib (PHP1BMaternal GNAS methylation imprintsDifferentially methylated regionsStimulatory G protein alpha-subunitAutosomal dominant PHP1BParathyroid hormone resistancePseudohypoparathyroidism type IbProximal renal tubulesAbnormal GNAS methylationImpaired oocyte maturationOocyte-expressed genesGain of methylationSporadic PHP1BHormone resistanceSperm injectionPHP1BMale factorImprinting defectsGenetic defects