ArticleBone2016
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab.
Article in Bone, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action Group.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Hajdu-Cheney Syndrome: A Systematic Review of the Literature.International journal of environmental research and public health · 2020Pooled it
- Hajdu-Cheney Syndrome in a Two-Generation Family: Longitudinal Skeletal Progression and Differential Therapeutic Responses in a Mother and Her Son.International journal of molecular sciences · 2026Article
- Article
- A NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells.Bone · 2025Article
- Regulation of Notch1 Signalling by Long Non-Coding RNAs in Cancers and Other Health Disorders.International journal of molecular sciences · 2023Review
- Article
- Exploratory use of romosozumab for osteoporosis in a patient with Hajdu-Cheney syndrome: a case report.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2023Article
- Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.JBMR plus · 2023Article
- Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.International journal of molecular sciences · 2022Review
- Article
- Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.Pediatric rheumatology online journal · 2022Article
- Hajdu-Cheney Syndrome: Report of a Case in Spain.Diagnostics (Basel, Switzerland) · 2022Article
- Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments.Annals of medicine and surgery (2012) · 2021Article
- Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab-A Rare Case Report.International journal of environmental research and public health · 2021Article
- Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.Annals of medicine and surgery (2012) · 2021Article
- Relevance of Notch Signaling for Bone Metabolism and Regeneration.International journal of molecular sciences · 2021Review
- A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment.Endocrine · 2021Article
- Review
- Antisense oligonucleotides targetingThe Journal of biological chemistry · 2020Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Notch receptors play a central role in skeletal development and homeostasis. Hajdu Cheney Syndrome (HCS) is a rare disease associated with mutations of NOTCH2 that lead to the translation of a truncated, presumably stable, NOTCH2 protein. As a consequence, a gain-of-NOTCH2 function is manifested. We report a subject presenting with HCS and her child, both harboring a new heterozygous mutation in Exon 34 of NOTCH2 upstream of the PEST domain. The subject presented with osteoporosis, fractures, acroosteolysis and splenomegaly but did not have neurological complications, cardiovascular defects or polycystic kidneys. Sequencing of genomic DNA revealed a previously unreported mutation at nucleotide 6667C>T leading to a Gln2223Ter protein product in the subject and her son. Preclinical studies have demonstrated that the bone loss in HCS is secondary to enhanced osteoclastogenesis and bone resorption, and the same mechanism may operate in humans. Accordingly, the case we report was treated and responded to therapy with denosumab with an increase in bone mineral density (BMD). However, acroosteolysis progressed and was not modified by denosumab. In conclusion, we report a case of HCS associated with a novel mutation in NOTCH2 and its response to denosumab on BMD.
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Registered trials
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.