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MIM.607273 17p11.2

Saturday 27 November 2004

The folliculin gene (FLCN), also known as BHD, is the only known susceptibility gene for Birt-Hogg-Dubé syndrome.

Birt-Hogg-Dubé syndrome is a rare inherited cancer syndrome caused by a germline mutation in the folliculin (FLCN) gene, but the genetic causes for histologic diversity of renal tumors in Birt-Hogg-Dubé syndrome have not been elucidated.

Multiple renal tumors of diverse morphology are rare and typically seen in Birt-Hogg-Dubé syndrome.


BHDS is the autosomal dominant predisposition to the development of follicular hamartomas, lung cysts, spontaneous pneumothorax, and/or kidney neoplasms.

To date, 53 unique germline mutations have been reported. FLCN mutation detection rate is 88%. FLCN encodes a predicted 579-amino acid protein, designated folliculin that is highly conserved between humans and homologs in mice, Drosophila, and C. elegans.

- germline mutation of FLCL in Birt-Hogg-Dube syndrome (MIM.135150)

- somatic mutation of FLCL

- germline mutation of FLCL in primary spontaneous pneumothorax (MIM.173600)


- FLCN mutation database


- Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms. Gatalica Z, Lilleberg SL, Vranic S, Eyzaguirre E, Orihuela E, Velagaleti G. Hum Pathol. 2009 Dec;40(12):1813-9. PMID: 19733897

- Schmidt LS. Birt-Hogg-Dube syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med. 2004 Dec;4(8):877-85. PMID: 15579035

- Okimoto K, Kouchi M, Matsumoto I, Sakurai J, Kobayashi T, Hino O. Natural history of the Nihon rat model of BHD. Curr Mol Med. 2004 Dec;4(8):887-93. PMID: 15579036

- Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT. Inactivation of BHD in sporadic renal tumors. Cancer Res. 2003 Aug 1;63(15):4583-7. PMID: 12907635