ArticleEndocrine connections2018
Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.
Article in Endocrine connections, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 11 citations in OpenAlex.
- The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.BMC ophthalmology · 2024Pooled it
- A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?Molecular genetics and genomics : MGG · 2022Pooled it
- Hypoxia signaling pathway: A central mediator in endocrine tumors.Frontiers in endocrinology · 2022Review
- VHL syndrome without clear family history: A rare case report and literature review of Chinese patients.Frontiers in neurology · 2022Article
- Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.Cancer cell international · 2021Article
- Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack.Endocrine connections · 2021Review
- Clinical diagnosis, treatment and screening of the VHL gene in three von Hippel-Lindau disease pedigrees.Experimental and therapeutic medicine · 2020Article
- Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.Medicines (Basel, Switzerland) · 2020Review
- The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.Frontiers in endocrinology · 2020Review
- A Novel RNF139 Mutation in Hemangioblastomas: Case Report.Frontiers in neurology · 2019Article
- Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.Endocrine connections · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextVon Hippel-Lindau (VHL) disease manifests as a variety of benign and malignant neoplasms. Previous studies of VHL disease have documented several genotype-phenotype correlations; however, many such correlations are still unknown. Increased identification of new mutations and patients with previously described mutations will allow us to better understand how PATIENTS AND
designA total of 45 individuals from five unrelated families were evaluated, of which 21 patients were either diagnosed with VHL disease or showed strong evidence related to this disease. We compared the patients' gene sequencing results with their medical records including CT or MRI scans, eye examinations and laboratory/pathological examinations. Patients were also interviewed to obtain information regarding their family history.
resultsWe identified four missense mutations: c.239G>T (p.Ser80Ile), linked with VHL Type 2B, was associated with renal cell carcinoma, pheochromocytoma and hemangioma in the cerebellum; c.232A>T (p.Asn78Tyr) manifested as RCC alone and likely caused VHL Type 1; c.500G>A (p.Arg167Gln) mutation was more likely to cause VHL Type 2 than Type 1 as it preferentially induced Pheo and HB in the retina, cerebellum and spinal cord; c.293A>G (p.Try98Cys) was associated with Pheo and thus likely induced VHL Type 2.
conclusionsCharacterizing VHL disease genotype-phenotype correlations can enhance the ability to predict the risk of individual patients developing different VHL-related phenotypes. Ultimately, such insight will improve the diagnostics, surveillance and treatment of VHL patients. PRECIS: Four missense mutations in
Indexed as
Identifiers
What OpenQuestion holds
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.