Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Folliculin

The FLCN gene encodes folliculin which when mutated causes various renal tumors, Birt-Hogg-Dube syndrome, and habitual pneumothorax. Somatic and germline mutations are observed. If the disease goes in families a germline mutation is likely, but a second hit has to be considered.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nonpapillary renal cell carcinoma
DIRC2
FLCN
HNF1A
HNF1B
OGG1
RNF139
VHL

References:

1.

Hino O et al. (2001) A novel renal carcinoma predisposing gene of the Nihon rat maps on chromosome 10.

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2.

Nickerson ML et al. (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.

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3.

Khoo SK et al. (2002) Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

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4.

Shin JH et al. (2003) Mutations of the Birt-Hogg-Dubé (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability.

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5.

Kahnoski K et al. (2003) Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours.

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6.

Lingaas F et al. (2003) A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.

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7.

Okimoto K et al. (2004) A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer.

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8.

Painter JN et al. (2005) A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

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9.

Schmidt LS et al. (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

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10.

Baba M et al. (2006) Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.

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11.

Gunji Y et al. (2007) Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.

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12.

Toro JR et al. (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.

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13.

Ren HZ et al. (2008) Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

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14.

Hartman TR et al. (2009) The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis.

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15.

Kluijt I et al. (2009) Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome.

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16.

Wei MH et al. (2009) The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

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17.

Hudon V et al. (2010) Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin.

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18.

Hasumi Y et al. (2009) Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2.

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19.

Kunogi M et al. (2010) Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

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20.

Nahorski MS et al. (2010) Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

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Update: Sept. 26, 2018