ArticleBMC medical genetics2012
Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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
12 citing papers in PubMed, 27 citations in OpenAlex.
- Characterization of the Pheochromocytoma-Predominant Subgroup of von Hippel-Lindau Disease.Urology · 2025Article
- Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant ofClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors.Journal of clinical medicine · 2023Article
- Clinicopathological analysis of extraneural sporadic haemangioblastoma occurring in the tongue.BMJ case reports · 2023Article
- The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.Journal of thrombosis and haemostasis : JTH · 2021Article
- Whole-exome sequencing and immunohistochemistry findings in von Hippel-Lindau disease.Molecular genetics & genomic medicine · 2019Article
- Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.Journal of human genetics · 2017Article
- Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark.European journal of human genetics : EJHG · 2017Article
- Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.Cancer biology & therapy · 2016Article
- Risk of new tumors in von Hippel-Lindau patients depends on age and genotype.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.Journal of human genetics · 2014Article
- Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma.Indian journal of human genetics · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundvon Hippel-Lindau (VHL) disease is a hereditary cancer syndrome in which the patients develop retinal and central nervous system hemangioblastomas, pheochromocytomas and clear-cell renal tumors. The autosomal dominant disease is caused by mutations in the VHL gene.
methodsVHL mutational analysis was carried out by sequencing of the coding sequence and by multiplex ligation-dependent probe amplification analysis. The functional consequence of the variants was investigated using in silico prediction tools.
resultsA total of 289 probands suspected of having VHL syndrome have been screened for mutations in the VHL gene. Twenty-six different VHL mutations were identified in 36 families including one in-frame duplication, two frame-shift mutations, four nonsense mutations, twelve missense mutations, three intronic mutations and four large genomic rearrangements. Three of these mutations (c.319 C > T, c.342_343dupGGT and c.520_521dupAA) were novel.
conclusionsIn this study we report the VHL germ-line mutations found in Danish families. We found three novel VHL mutations where two were classified as pathogenic and the latter was classified as a variant of unknown significance. Together, our findings contribute to the interpretation of the potential pathogenicity of VHL germ-line mutations.
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.