ArticleThe Journal of clinical endocrinology and metabolism2015
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.
Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The trial behind it
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Who cites it
15 citing papers in PubMed, 34 citations in OpenAlex.
- Pseudohypoparathyroidism: complex disease variants with unfortunate names.Journal of molecular endocrinology · 2024Review
- Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib.The Journal of clinical endocrinology and metabolism · 2022Article
- Pseudohypoparathyroidism during pregnancy and the postpartum period: A case series of five patients.Frontiers in endocrinology · 2022Article
- Pregnancy exposure to synthetic phenols and placental DNA methylation - An epigenome-wide association study in male infants from the EDEN cohort.Environmental pollution (Barking, Essex : 1987) · 2021Article
- Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders.Human molecular genetics · 2021Article
- Molecular Definition of Pseudohypoparathyroidism Variants.The Journal of clinical endocrinology and metabolism · 2021Review
- Methylation of the C19MC microRNA locus in the placenta: association with maternal and chilhood body size.International journal of obesity (2005) · 2020Article
- Pseudohypoparathyroidism.Endocrinology and metabolism clinics of North America · 2018Review
- Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nature reviews. Endocrinology · 2018Review
- 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 · 2018Article
- Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Journal of clinical research in pediatric endocrinology · 2017Review
- Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.The Journal of clinical endocrinology and metabolism · 2017Article
- Pseudohypoparathyroidism: one gene, several syndromes.Journal of endocrinological investigation · 2017Review
- Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Nature reviews. Endocrinology · 2016Review
- Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.Clinical epigenetics · 2015Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
contextGNAS 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.
objectivesThis study aimed to determine whether GNAS methylation abnormalities affect intrauterine growth. PATIENTS AND
methodsBirth parameters were collected of patients who later developed sporPHP1B or AD-PHP1B, and of their healthy siblings. Comparisons were made to newborns affected by PPHP or PHP1A.
resultsAs newborns, AD-PHP1B patients were bigger than their healthy siblings and well above the reference average; increased sizes were particularly evident if the mothers were unaffected carriers of STX16 deletions. SporPHP1B newborns were slightly above average for weight and length, but their overgrowth was less pronounced than that of AD-PHP1B newborns from unaffected mothers.
conclusionLOM at GNAS exon A/B due to maternal STX16 deletions and the resulting biallelic A/B expression are associated with enhanced fetal growth. These findings are distinctly different from those of PPHP patients with paternal GNAS exons 2-13 mutations, whose birth parameters are almost 4.5 z-scores below those of AD-PHP1B patients born to healthy mothers.
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