Gene: FLCN

Alternate names for this Gene: BHD|DENND8B|FLCL

Gene Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: folliculin

Type of Gene: protein-coding

rs2292527 in FLCN gene and Childhood asthma PMID 23829686 2013 Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.

rs1060502368 in FLCN gene and Multiple fibrofolliculomas PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 20413710 2010 Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

PMID 24393238 2014 Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 18579543 2008 Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

PMID 22068306 2012 Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X.

PMID 18234728 2008 BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 22146830 2011 Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

PMID 20522427 2010 Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

PMID 27470329 2016 Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

PMID 27643397 2016 Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.

PMID 19785621 2010 Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.

PMID 18794106 2008 Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

PMID 26402642 2016 Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

PMID 12204536 2002 Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

PMID 19802896 2010 A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.

PMID 26603437 2016 Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

PMID 23264078 2013 A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.

PMID 27652079 2016 Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.

PMID 27257988 2016 An 18-year-old man with recurrent pneumothorax since he was 10-year-old.

PMID 23050938 2012 Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors.

PMID 21937013 2012 [Birt-Hogg-Dubé syndrome: an update].

PMID 23386036 2013 Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.

PMID 20618353 2011 Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

PMID 18505456 2008 Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 21538689 2011 Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

PMID 27906882 2016 Familial pneumothoraces: Birt-Hogg-Dubé syndrome.

PMID 22571569 2012 Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.

PMID 23414156 2013 Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene.

rs1060502368 in FLCN gene and Neoplastic Syndromes, Hereditary PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 18579543 2008 Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

PMID 22068306 2012 Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X.

PMID 18234728 2008 BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 29720200 2018 Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.

PMID 17034545 2006 A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome.

PMID 19785621 2010 Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.

PMID 27780965 2016 A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.

PMID 17611575 2008 Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.

PMID 27470329 2016 Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

PMID 18794106 2008 Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

PMID 21506000 2011 Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011.

PMID 26402642 2016 Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

PMID 15805188 2005 Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.

PMID 27257988 2016 An 18-year-old man with recurrent pneumothorax since he was 10-year-old.

PMID 28869776 2018 Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?

PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.

PMID 23264078 2013 A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.

PMID 26603437 2016 Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

PMID 15657874 2005 A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

PMID 21937013 2012 [Birt-Hogg-Dubé syndrome: an update].

PMID 19802896 2010 A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

PMID 18573707 2008 Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene.

PMID 23386036 2013 Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.

PMID 20618353 2011 Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

PMID 27906882 2016 Familial pneumothoraces: Birt-Hogg-Dubé syndrome.

PMID 22146830 2011 Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

PMID 22571569 2012 Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.

PMID 22725638 2012 Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited.

PMID 18505456 2008 Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

PMID 21538689 2011 Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

PMID 25655561 2015 Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

rs398124542 in FLCN gene and PNEUMOTHORAX, PRIMARY SPONTANEOUS PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.