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 |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
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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3. |
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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4. |
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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5. |
Hudon V et al. (2010) Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin.
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6. |
Wei MH et al. (2009) The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
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7. |
Kluijt I et al. (2009) Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome.
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8. |
Hartman TR et al. (2009) The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis.
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9. |
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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10. |
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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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. |
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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13. |
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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14. |
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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15. |
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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16. |
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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17. |
Kahnoski K et al. (2003) Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours.
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18. |
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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19. |
Khoo SK et al. (2002) Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
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20. |
Hino O et al. (2001) A novel renal carcinoma predisposing gene of the Nihon rat maps on chromosome 10.
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21. |
NCBI article
NCBI 201163
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22. |
OMIM.ORG article
Omim 607273
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23. |
Orphanet article
Orphanet ID 121839
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24. |
Wikipedia Artikel
Wikipedia DE (Laotische_Front_für_nationalen_Aufbau)
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Update: 14. August 2020