Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Folliculin

Das FLCN-Gen kodiert Folliculin, welches, wenn mutiert, verschiedene Nierentumore, das Birt-Hogg-Dube-Syndrom und habituellen Pneumothorax auslösen kann. Sowohl somatische als auch Keimbahnmutationen können vorkommen. Bei einer familiären Häufung sollte an Keimbahnmutationen gedacht werden, jedoch ist auch die two-hit Hypothese zu berücksichtigen.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Nichtpapilläres Nierenzellkarzinom
DIRC2
FLCN
HNF1A
HNF1B
OGG1
RNF139
VHL

Referenzen:

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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21.

NCBI article

NCBI 201163 [^]
22.

OMIM.ORG article

Omim 607273 [^]
23.

Orphanet article

Orphanet ID 121839 [^]
24.

Wikipedia Artikel

Wikipedia DE (Laotische_Front_für_nationalen_Aufbau) [^]
Update: 9. Mai 2019