ArticleThe Journal of clinical endocrinology and metabolism2013
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 79 citations in OpenAlex.
- Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Review
- Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.International journal of molecular sciences · 2024Review
- Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.Biology of sex differences · 2024Article
- Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- Pseudohypoparathyroidism: complex disease variants with unfortunate names.Journal of molecular endocrinology · 2024Review
- Review
- A novel synonymous variant in exon 1 ofBone reports · 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
- MaternalFrontiers in genetics · 2021Article
- Differences of DNA methylation patterns in the placenta of large for gestational age infant.Medicine · 2020Observational
- DNA methylation changes during preimplantation development reveal inter-species differences and reprogramming events at imprinted genes.Clinical epigenetics · 2020Article
- Methylation of the C19MC microRNA locus in the placenta: association with maternal and chilhood body size.International journal of obesity (2005) · 2020Article
- Management of pseudohypoparathyroidism.Current opinion in pediatrics · 2019Review
- Pseudohypoparathyroidism.Endocrinology and metabolism clinics of North America · 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
- Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nature reviews. Endocrinology · 2018Review
- GNAS mutations and heterotopic ossification.Bone · 2018Review
- Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Journal of clinical research in pediatric endocrinology · 2017Review
- Large G protein α-subunit XLαs limits clathrin-mediated endocytosis and regulates tissue iron levels in vivo.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
contextHeterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia (POH) when paternally inherited. Recent studies have suggested that mutations on the paternal, but not the maternal, GNAS allele could be associated with intrauterine growth retardation (IUGR) and thus small size for gestational age.
objectivesThe aim of the study was to confirm and expand these findings in a large number of patients presenting with either PHP-Ia or PPHP/POH. PATIENTS AND
methodsWe collected birth parameters (ie, gestational age, weight, length, and head circumference) of patients with either PHP-Ia (n = 29) or PPHP/POH (n = 26) with verified GNAS mutations. The parental allele carrying the mutation was assessed by investigating the parents or, when a de novo mutation was identified, through informative intragenic polymorphisms.
resultsHeterozygous GNAS mutations on either parental allele were associated with IUGR. However, when these mutations are located on the paternal GNAS allele, IUGR was considerably more pronounced than with mutations on the maternal allele. Moreover, birth weights were lower with paternal GNAS mutations affecting exons 2-13 than with exon 1/intron 1 mutations.
conclusionsThese data indicate that a paternally derived GNAS transcript, possibly XLαs, is required for normal fetal growth and development and that this transcript affects placental functions. Thus, similar to other imprinted genes, GNAS controls growth and/or fetal development.
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