Some of us want to know everything we can learn about HCS. Unfortunately a lot of case studies are behind paywalls, still, there are a number that are free. I broke it into 4 sections. 1) Case studies of patients and family members, 2) Discovery of the mutations on Chromosome 1 that result in a defective Notch2 pathway, and 3) Research into RANK-L over expression due to HCS mutation on the Notch2 gene. 4) Links and documents that are insightful.
I did not realize there is so much research going on into RANK-L but I cannot say I am surprised because there is a lot of potential for therapeutic medications for osteoporosis and arthritis (inflammation). A lot of earlier studies are into side effects of HCS and complications from surgeries such as anesthesia, non-fusion of bone surgeries, and the use of bisphosphonates.
- Case Studies:
- Hajdu-Cheney syndrome with serpentine fibula-polycystic kidney syndrome
- Hajdu-Cheney syndrome: A case report with review of literature
- A case of Hajdu-Cheney syndrome and the use of bisphosphonates
- Hajdu-Cheney Syndrome and Syringomyelia: A Case Report
- Hajdu-Cheney syndrome with extreme proximal junctional kyphosis: a case report
- Hajdu-Cheney syndrome: Report of a case with unusual dental findings
- A novel NOTCH2 mutation in a patient with Hajdu-Cheney syndrome
- Hajdu-Cheney syndrome: a case report with new radiological findings
- Hajdu-Cheney Syndrome: A Case Report with Unusual Dental Findings
- A Case of Hajdu-Cheney Syndrome and the Use of Bisphosphonates
- Hajdu-Cheney Syndrome with Syringomyelia: A Case Report
- Hajdu-Cheney Syndrome with Serpentine Fibula-Polycystic Kidney Syndrome
- Hajdu-Cheney Syndrome: Report of a Case with New Radiological Findings
- A Novel NOTCH2 Mutation in a Patient with Hajdu-Cheney Syndrome
- Hajdu-Cheney Syndrome with Extreme Proximal Junctional Kyphosis: A Case Report
- Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child Treated with Vibrotherapy
- Distinct Severity of Phenotype in Hajdu-Cheney Syndrome: A Case Report
- Hajdu-Cheney Syndrome: Report of a Case in Spain
- Hajdu-Cheney Syndrome: A Case Report and Review of the Literature
- Hajdu-Cheney Syndrome with a Focus on Foot Deformities
- Congenital Glaucoma: A Novel Ocular Manifestation of Hajdu-Cheney Syndrome
Research Into the genetic/biological pathways of HCS
Studies on NOTCH2 Mutation in Exon 34 Leading to HCS:
- 2011:
- 2013:
- 2014:
- 2016:
- 2017:
- 2018:
- 2019:
- 2020:
- 2021:
- 2022:
- 2023:
- A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation
- Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab
- Hajdu-Cheney syndrome with atypical cardiovascular abnormalities
- Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review
- 2024
- First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant
- NOTCH2 promotes osteoclast maturation and metabolism and modulates the transcriptome profile during osteoclastogenesis
- Regulation of bone homeostasis: signaling pathways and therapeutic targets
- TNFα has differential effects on the transcriptome profile of selected populations in murine cartilage
- Anaesthesia for a patient of Hajdu Cheney syndrome scheduled for scoliosis surgery-A case study
- Solitary Band Acro-osteolysis in Hajdu-Cheney Syndrome
- The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families
Recent Research into RANK-L and its over-expression in HCS
https://www.sciencedirect.com/topics/medicine-and-dentistry/receptor-activator-of-nuclear-factor-kappa-b
The anti-tumor effect of RANKL inhibition in malignant solid tumors – A systematic review
https://www.sciencedirect.com/topics/immunology-and-microbiology/receptor-activator-of-nuclear-factor-kappa-b
Development and Disease of Mouse Muscular and Skeletal Systems
https://pubmed.ncbi.nlm.nih.gov/11485016/
Role of receptor activator of nuclear factor-kappaB ligand and osteoprotegerin in bone cell biology
https://academic.oup.com/jcem/article-abstract/92/12/4514/2596621?redirectedFrom=fulltext
The Role of Receptor Activator of Nuclear Factor-κB (RANK)/RANK Ligand/Osteoprotegerin: Clinical Implications
https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/receptor-activator-of-nuclear-factor-kappa-b
Receptor activator of nuclear factor-kappa B (RANK) signaling pathway inhibitors
https://pubmed.ncbi.nlm.nih.gov/19085839/
Receptor activator of nuclear factor-kappa B ligand (RANKL) stimulates bone-associated tumors through functional RANK expressed on bone-associated cancer cells?
https://pubmed.ncbi.nlm.nih.gov/11181547/
Receptor activator of nuclear factor-kappa b ligand activates nuclear factor-kappa b in osteoclast precursors
https://pubmed.ncbi.nlm.nih.gov/11863217/
RANK (receptor activator of nuclear factor kappa B) and RANK ligand are expressed in giant cell tumors of bone
https://www.spandidos-publications.com/10.3892/mmr.2015.3152
Receptor activator of nuclear factor-κB ligand (RANKL)/RANK/osteoprotegerin system in bone and other tissues (Review)
https://pubmed.ncbi.nlm.nih.gov/26712216/
Serum level of receptor activator of nuclear factor kappa-B ligand in patients with psoriasis
https://academic.oup.com/cardiovascres/article-abstract/94/1/105/271837?redirectedFrom=fulltext
Receptor activator of nuclear factor-κB ligand is a novel inducer of myocardial inflammation
https://rbm.iqvia.com/products-services/humanmap-services/receptor-activator-of-nuclear-factor-kappa-b-ligand-rankl/
Receptor Activator of Nuclear Factor Kappa B Ligand (RANKL)
https://e-enm.org/journal/view.php?number=2419
Nuclear Factor-Kappa B Regulation of Osteoclastogenesis and Osteoblastogenesis
https://pmc.ncbi.nlm.nih.gov/articles/PMC3792720/
A Role for Nuclear Factor Kappa B/Rel Transcription Factors in the Regulation of the Recombinase Activator Genes
https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/rankl
Biological role of heparan sulfate in osteogenesis: A review
https://bmccancer.biomedcentral.com/articles/10.1186/s12885-018-4887-3
Receptor activator of nuclear factor kB ligand, osteoprotegerin, and risk of death following a breast cancer diagnosis: results from the EPIC cohort
https://en.wikipedia.org/wiki/RANKL
RANKL
https://link.springer.com/article/10.1007/s10067-017-3570-4
Receptor activator of nuclear factor kappa-B ligand (RANKL) but not sclerostin or gene polymorphisms is related to joint destruction in early rheumatoid arthritis
https://atm.amegroups.org/article/view/12726
Inhibition of receptor activator of nuclear factor kappa-B ligand pathway for the management of aggressive osteosarcoma
https://pubmed.ncbi.nlm.nih.gov/30041283/
Expression of receptor activator of nuclear factor kappa B ligand in bladder cancer
https://jitc.bmj.com/content/12/6/e009432
Circulating receptor activator of nuclear factor kappa-B ligand (RANKL) levels predict response to immune checkpoint inhibitors in advanced non-small cell lung cancer (NSCLC)
https://academic.oup.com/edrv/article-abstract/29/2/155/2354996?redirectedFrom=fulltext
Receptor Activator of Nuclear Factor κB Ligand and Osteoprotegerin Regulation of Bone Remodeling in Health and Disease
https://pubmed.ncbi.nlm.nih.gov/9824778/
Nuclear factor kappa B: important transcription factor and therapeutic target
https://pubmed.ncbi.nlm.nih.gov/16951341/
Receptor activator of NF-kappa B ligand and osteoprotegerin regulate proinflammatory cytokine production in mice
Insightful Info about Hajdu-Cheney Syndrome by one of us.
Fairly recently, in 2022, Elizabeth Bombal completed her these titled “Assessment and Development of Educational Resources for Hajdu-Cheney Syndrome”. Elizabeth also has HCS so it was a real treat to read the culmination of her hard work and perseverance.
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