Loss of Methylation at GNAS Exon A/B Is Associated With Increased Intrauterine Growth

Abstract : GNAS is one of few genetic loci that undergo allelic-specific methylation resulting in the parent-specific expression of at least four different transcripts. Due to monoallelic expression, heterozygous GNAS mutations affecting either paternally or maternally derived transcripts cause different forms of pseudohypoparathyroidism (PHP), including autosomal-dominant PHP type Ib (AD-PHP1B) associated with loss of methylation (LOM) at exon A/B alone or sporadic PHP1B (sporPHP1B) associated with broad GNAS methylation changes. Similar to effects other imprinted genes have on early development, we recently observed severe intrauterine growth retardation in newborns, later diagnosed with pseudopseudohypoparathyroidism (PPHP) because of paternal GNAS loss-of-function mutations.
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Submitted on : Thursday, December 26, 2019 - 9:53:32 AM
Last modification on : Thursday, January 2, 2020 - 5:05:53 PM

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Anne-Claire Bréhin, Cindy Colson, Stéphanie Maupetit-Méhouas, Virginie Grybek, Nicolas Richard, et al.. Loss of Methylation at GNAS Exon A/B Is Associated With Increased Intrauterine Growth. Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2015, 100 (4), pp.E623-E631. ⟨10.1210/jc.2014-4047⟩. ⟨hal-02423832⟩

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