ArticleHuman mutation2009
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 37 citations in OpenAlex.
- Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases.The American journal of case reports · 2025Article
- Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation.Chinese medical journal · 2019Article
- Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.BMC medical genetics · 2018Article
- Birt-Hogg-Dubé syndrome: spontaneous pneumothorax as a first symptom.BMJ case reports · 2018Article
- Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene.The Korean journal of thoracic and cardiovascular surgery · 2017Article
- Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.BMC medical genetics · 2017Article
- Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.BMC developmental biology · 2016Article
- A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.Respiratory research · 2016Article
- A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.Familial cancer · 2013Article
- Birt-Hogg-Dube syndrome: clinicopathological features of the lung.Journal of clinical pathology · 2013Review
- Genetic study in a case of birt-hogg-dubé syndrome.Annals of dermatology · 2011Article
- Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.Journal of medical genetics · 2010Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
The folliculin gene (FLCN), also known as BHD, is the only known susceptibility gene for Birt-Hogg-Dubé syndrome. BHDS is the autosomal dominant predisposition to the development of follicular hamartomas, lung cysts, spontaneous pneumothorax, and/or kidney neoplasms. To date, 53 unique germline mutations have been reported. FLCN mutation detection rate is 88%. FLCN encodes a predicted 579-amino acid protein, designated folliculin that is highly conserved between humans and homologs in mice, Drosophila, and C. elegans. We developed the first online database detailing all FLCN variants identified in our laboratory and reported in the literature. The FLCN database applies, and assists researchers in applying HGVS nomenclature guidelines. To date, the FCLN database includes 84 variants: 53 unique germline mutations and 31 SNPs. The majority of FLCN germline mutations are predicted to produce a truncated folliculin, resulting in loss of function. The FLCN mutations consist of: 45% (24/53) deletions, 32% (17/53) substitutions (10 putative-splice site, 5 nonsense, and 2 missense), 15% (8/53) duplications, 6% (3/53) insertion/deletions and 2% (1/53) insertions. The database strives to systematically unify current knowledge of FLCN variants and will be useful to geneticists and genetic counselors while also providing a rapid and systematic resource for investigators.
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