title: The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
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.
authors: Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD 20892-4562, USA.
authors: Ming-Hui
authors: MH
authors: Wei
authors: Patrick W
authors: PW
authors: Blake
authors: Julia
authors: J
authors: Shevchenko
authors: Jorge R
authors: JR
authors: Toro
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D030541:Databases, Genetic; D006222:Hamartoma / Q000235:genetics; D006801:Humans; D020407:Internet; D007680:Kidney Neoplasms / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D011030:Pneumothorax / Q000235:genetics / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins