ArticleMolecular genetics & genomic medicine2015
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.
Article in Molecular genetics & genomic medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 53 citations in OpenAlex.
- Pattern of height and weight development in a large cohort of underage Chinese pseudohypoparathyroidism patients from a single center.Endocrine connections · 2026Article
- Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.European journal of pediatrics · 2026Article
- Variability of endocrine findings with age and clinical severity in the long-term follow-up of pseudohypoparathyroidism: evidence of TRH resistance with central hypothyroidism.Frontiers in endocrinology · 2026Article
- Significance of GNAS mutations for morbid obesity in children.Human genomics · 2025Article
- A novelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.European journal of endocrinology · 2023Observational
- Review
- Pathogenic variants of theBone reports · 2022Article
- Article
- Frequency ofFrontiers in endocrinology · 2022Article
- A novel synonymous variant in exon 1 ofBone reports · 2021Article
- Molecular Definition of Pseudohypoparathyroidism Variants.The Journal of clinical endocrinology and metabolism · 2021Review
- Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.The Journal of clinical endocrinology and metabolism · 2020Article
- Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.Medicine · 2020Article
- Cutaneous nodules and a novelWorld journal of clinical cases · 2020Article
- Review
- Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.Hormone research in paediatrics · 2020Review
- Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.Journal of the Endocrine Society · 2019Article
- Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman.Case reports in endocrinology · 2019Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maternally inherited inactivating GNAS mutations are the most common cause of parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO) leading to pseudohypoparathyroidism type Ia (PHPIa) due to Gsα deficiency. Paternally inherited inactivating mutations lead to isolated AHO signs characterizing pseudo-pseudohypoparathyroidism (PPHP). Mutations are distributed throughout the Gsα coding exons of GNAS and there is a lack of genotype-phenotype correlation. In this study, we sequenced exon 1-13 of GNAS in a large cohort of PHPIa- and PPHP patients and identified 58 different mutations in 88 patients and 27 relatives. Thirty-three mutations including 15 missense mutations were newly discovered. Furthermore, we found three hot spots: a known hotspot (p.D190MfsX14), a second at codon 166 (p.R166C), and a third at the exon 5 acceptor splice site (c.435 + 1G>A), found in 15, 5, and 4 unrelated patients, respectively. Comparing the clinical features to the molecular genetic data, a significantly higher occurrence of subcutaneous calcifications in patients harboring truncating versus missense mutations was demonstrated. Thus, in the largest cohort of PHPIa patients described to date, we extend the spectrum of known GNAS mutations and hot spots and demonstrate for the first time a correlation between the genetic defects and the expression of a clinical AHO-feature.
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