ArticleAmerican journal of medical genetics. Part A2008
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.
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Who cites it
65 citing papers in PubMed, 1 synthesis or guideline pooled it, 145 citations in OpenAlex.
- Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.BMC musculoskeletal disorders · 2023Pooled it
- Clinical and genetic features, surgical management, and longitudinal follow-up in two children with progressive osseous heteroplasia.Frontiers in genetics · 2026Article
- Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype.Frontiers in endocrinology · 2026Article
- Contract to kill: GNAS mutation.Molecular cancer · 2025Review
- Fibroblasts in heterotopic ossification: mechanisms and therapeutic targets.International journal of biological sciences · 2025Review
- The role of miRNAs as biomarkers in heterotopic ossification.EFORT open reviews · 2024Review
- Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia.Genes & diseases · 2024Article
- Cutaneous Calcified Mass of Foot in Pseudohypoparathyoidism: Case Report.Medicina (Kaunas, Lithuania) · 2024Article
- Progressive osseous heteroplasia in a five-month-old boy with a mutation in exon 9 ofAmerican journal of translational research · 2024Article
- Progressive osseous heteroplasia: A case report with an unexpected trigger.Bone reports · 2023Article
- A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.Calcified tissue international · 2023Article
- Cancellous bone-like tissue replacement from calcinosis in patients with systemic sclerosis with multiple external root resorption.Bone reports · 2022Article
- Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant.Children (Basel, Switzerland) · 2022Article
- Aberrant Bone Regulation in Albright Hereditary Osteodystrophy dueto Gnas Inactivation: Mechanisms and Translational Implications.Current osteoporosis reports · 2022Review
- Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhood.Endocrine · 2021Article
- A self-amplifying loop of YAP and SHH drives formation and expansion of heterotopic ossification.Science translational medicine · 2021Article
- Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?Endocrine · 2021Review
- Molecular Definition of Pseudohypoparathyroidism Variants.The Journal of clinical endocrinology and metabolism · 2021Review
- Spontaneous heterotopic mesenteric ossification around the pancreas causing duodenal stenosis: A case report with literature review.International journal of surgery case reports · 2021Article
- A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report.BMC endocrine disorders · 2021Article
5 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with GNAS inactivation. However, occasional patients with AHO and pseudohypoparathyroidism 1a/c (PHP1a/c; AHO features plus hormone resistance) have also been described who have progressive HO. This study was undertaken to define the diagnostic and mutational spectrum of POH and progressive disorders of HO, and to distinguish them from related disorders in which HO remains confined to the skin and subcutaneous tissues. We reviewed the charts of 111 individuals who had cutaneous and subcutaneous ossification. All patients were assessed for eight characteristics: age of onset of HO, presence and location of HO, depth of HO, type of HO, progression of HO, features of AHO, PTH resistance, and GNAS mutation analysis. We found, based on clinical criteria, that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of GNAS-inactivating conditions associated with extra-skeletal ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c).
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.