ArticleJournal of medical genetics2010
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.
Article in Journal of medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 2 of them syntheses that pooled it.
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Who cites it
76 citing papers in PubMed, 2 syntheses or guidelines pooled it, 165 citations in OpenAlex.
- The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- 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
- Adrenocortical carcinoma as a manifestation of Birt-Hogg-Dubé syndrome.Endocrine-related cancer · 2026Article
- Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.British journal of cancer · 2026Article
- Birt-Hogg-Dubé syndrome presenting as recurrent secondary spontaneous pneumothorax: VATS.Indian journal of thoracic and cardiovascular surgery · 2025Article
- Thyroid Carcinoma in Birt-Hogg-Dubé Syndrome: Case Series and Review of Literature.Thyroid : official journal of the American Thyroid Association · 2025Review
- Birt-Hogg-Dubé syndrome - a rare genetic disorder complicated by pneumothorax: A case report.World journal of clinical cases · 2025Article
- Coexistent Sjogren's syndrome and Birt-Hogg-Dube´ syndrome: a case report.BMC pulmonary medicine · 2023Review
- Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.Diagnostics (Basel, Switzerland) · 2023Article
- 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
- Characteristic Chest Computed Tomography Findings for Birt-Hogg-Dube Syndrome Indicating Requirement for Genetic Evaluation.Diagnostics (Basel, Switzerland) · 2023Article
- Review
- Delayed diagnosis of Birt-Hogg-Dubé syndrome might be aggravated by gender bias.EClinicalMedicine · 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
- Correlative analysis of lung CT findings in patients with Birt-Hogg-Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study.BMC medical imaging · 2022Article
- A novelRespiratory medicine case reports · 2022Article
- Epidemiology and clinical features of Birt-Hogg-Dubé syndrome: A nationwide population-based study in South Korea.PloS one · 2022Article
- Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases.International journal of general medicine · 2022Review
- Article
- A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.PloS one · 2022Article
16 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBirt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse.
objectivesBHDS may be caused by a germline deletion which cannot be detected by a conventional genetic approach. Real-time quantitative polymerase chain reaction (qPCR) may be able to identify such a mutation and thus provide us with a more accurate clinical picture of BHDS.
methodsThis study analysed 36 patients with multiple lung cysts of undetermined causes. Denaturing high performance liquid chromatography (DHPLC) was applied for mutation screening. If no abnormality was detected by DHPLC, the amount of each FLCN exon in genome was quantified by qPCR.
resultsAn FLCN germline mutation was found in 23 (63.9%) of the 36 patients by DHPLC and direct sequencing (13 unique small nucleotide alterations which included 11 novel mutations). A large genomic deletion was identified in two of the remaining 13 patients by qPCR (one patient with exon 14 deletion and one patient with a deletion encompassing exons 9 to 14). Mutations including genomic deletions were most frequently identified in the 3'-end of the FLCN gene including exons 12 and 13 (13/25=52.0%). The BHDS patients whose multiple cysts prompted the diagnosis in this study showed a very low incidence of skin and renal involvement.
conclusionsBHDS is due to large deletions as well as small nucleotide alterations. Racial differences may occur between Japanese and patients of European decent in terms of FLCN mutations and clinical manifestations.
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