Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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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