ArticleGenes, chromosomes & cancer2011
Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
Article in Genes, chromosomes & cancer, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.European journal of human genetics : EJHG · 2024Guideline
- A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.European journal of human genetics : EJHG · 2021Pooled it
- Article
- A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.Molecular genetics & genomic medicine · 2024Article
- Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.Orphanet journal of rare diseases · 2023Article
- Lymphangioleiomyomatosis and Other Cystic Lung Diseases.Immunology and allergy clinics of North America · 2023Review
- A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.American journal of medical genetics. Part A · 2023Article
- Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.Orphanet journal of rare diseases · 2022Article
- Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.BMC medical genomics · 2022Review
- A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.PloS one · 2022Article
- Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.Orphanet journal of rare diseases · 2021Article
- Comprehensive characterization of Alu-mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families.Human mutation · 2021Article
- A NovelFrontiers in genetics · 2021Article
- Lymphoplasmacytic lymphoma in a patient with Birt-Hogg-Dubé syndrome.International journal of hematology · 2020Article
- Birt-Hogg-Dubé syndrome.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis.Journal of oncology · 2020Review
- Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.Orphanet journal of rare diseases · 2019Article
- Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.BMC medical genomics · 2018Article
- Review
- Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion.Familial cancer · 2018Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
Birt-Hogg-Dubé syndrome (BHDS), caused by germline mutations in the folliculin (FLCN) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and kidney cancer. The FLCN mutation detection rate by bidirectional DNA sequencing in the National Cancer Institute BHDS cohort was 88%. To determine if germline FLCN intragenic deletions/duplications were responsible for BHDS in families lacking FLCN sequence alterations, 23 individuals from 15 unrelated families with clinically confirmed BHDS but no sequence variations were analyzed by real-time quantitative PCR (RQ-PCR) using primers for all 14 exons. Multiplex ligation-dependent probe amplification (MLPA) assay and array-based comparative genomic hybridization (aCGH) were utilized to confirm and fine map the rearrangements. Long-range PCR followed by DNA sequencing was used to define the breakpoints. We identified six unique intragenic deletions in nine patients from six different BHDS families including four involving exon 1, one that spanned exons 2-5, and one that encompassed exons 7-14 of FLCN. Four of the six deletion breakpoints were mapped, revealing deletions ranging from 5688 to 9189 bp. In addition, one 1341 bp duplication, which included exons 10 and 11, was identified and mapped. This report confirms that large intragenic FLCN deletions can cause BHDS and documents the first large intragenic FLCN duplication in a BHDS patient. Additionally, we identified a deletion "hot spot" in the 5'-noncoding-exon 1 region that contains the putative FLCN promoter based on a luciferase reporter assay. RQ-PCR, MLPA and aCGH may be used for clinical molecular diagnosis of BHDS in patients who are FLCN mutation-negative by DNA sequencing.
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Registered trials
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