ArticleThe Journal of clinical endocrinology and metabolism2021
High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.
Article in The Journal of clinical endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions.Clinical epigenetics · 2026Article
- From hypercalcemia to the diagnosis of pseudohypoparathyroidism type 1b: a case report.Frontiers in endocrinology · 2026Article
- Bidirectional disruption ofProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.JCI insight · 2025Article
- Contract to kill: GNAS mutation.Molecular cancer · 2025Review
- A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformations.Nature communications · 2025Article
- Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.JCI insight · 2024Article
- Somatic mutations in autoinflammatory and autoimmune disease.Nature reviews. Rheumatology · 2024Review
- Growth Hormone Deficiency in an Adolescent With Pseudohypoparathyroidism Type 1B.JCEM case reports · 2024Article
- GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.JCI insight · 2024Article
- Pseudohypoparathyroidism: complex disease variants with unfortunate names.Journal of molecular endocrinology · 2024Review
- The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis.The Journal of clinical investigation · 2023Article
- Review
- Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B).Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2022Article
- Article
- Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib.The Journal of clinical endocrinology and metabolism · 2022Article
- Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.The Journal of clinical endocrinology and metabolism · 2022Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
contextPatients with pseudohypoparathyroidism type 1b (PHP1b) show disordered imprinting of the maternal GNAS allele or paternal uniparental disomy (UPD). Genetic deletions in STX16 or in upstream exons of GNAS are present in many familial but not sporadic cases.
objectiveCharacterization of epigenetic and genetic defects in patients with PHP1b. DESIGN AND PATIENTS: DNA from 84 subjects, including 26 subjects with sporadic PHP1b, 27 affected subjects and 17 unaffected and/or obligate gene carriers from 12 PHP1b families, 11 healthy individuals, and 3 subjects with PHP1a was subjected to quantitative pyrosequencing of GNAS differentially methylated regions (DMRs), microarray analysis, and microsatellite haplotype analysis.
settingAcademic medical center. MAIN OUTCOME MEASUREMENTS: Molecular pathology of PHP1b.
resultsHealthy subjects, unaffected family members and obligate carriers of paternal PHP1b alleles, and subjects with PHP1a showed normal methylation of all DMRs. All PHP1b subjects showed loss of methylation (LOM) at the exon A/B DMR. Affected members of 9 PHP1b kindreds showed LOM only at the exon A/B DMR, which was associated with a 3-kb deletion of STX16 exons 4 through 6 in 7 families and a novel deletion of STX16 and adjacent NEPEPL1 in 1 family. A novel NESP deletion was found in 1 of 2 other families with more extensive methylation defects. One sporadic PHP1b had UPD of 20q, 2 had 3-kb STX16 deletions, and 5 had apparent epigenetic mosaicism.
conclusionsWe found diverse patterns of defective methylation and identified novel or previously known mutations in 9 of 12 PHP1b families.
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