- •We report the case of a patient with Birt-Hogg-Dubé syndrome showing the renal tumor-only phenotype.
- •Targeted sequencing of FLCN revealed a novel germline missense mutation (c.602A>C, p.Gln201Pro).
- •Protein analyses revealed that the FLCN missense mutation is pathogenic.
- •Whole-genome sequencing of one of the renal tumors identified another frameshift mutation in FLCN, suggesting a “second hit” mutation for tumorigenesis.
- •Our literature review suggested the relationship between missense mutations and the renal tumor-only phenotype.
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- Birt-Hogg-Dubé syndrome.Clin Chest Med. 2016; 37: 475-486
- Birt-Hogg-Dubé syndrome: clinical and molecular aspects of recently identified kidney cancer syndrome.Int J Urol. 2016; 23: 204-210
- Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.Br J Cancer. 2011; 105: 1912-1919
- Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.Orphanet J Rare Dis. 2014; 9: 163
- The UOK 257 cell line: a novel model for studies of the human Birt-Hogg-Dubé gene pathway.Cancer Genet Cytogenet. 2008; 180: 100-109
- Systematic chemical screening identifies disulfiram as a repurposed drug that enhances sensitivity to cisplatin in bladder cancer: a summary of preclinical studies.Br J Cancer. 2019; 121: 1027-1038
- Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization.PLoS One. 2010; 5: e15793
- BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.J Med Genet. 2008; 45: 321-331
- Two Japanese cases of birt-hogg-dubé syndrome with pulmonary cysts, fibrofolliculomas, and renal cell carcinomas.Case Rep Dermatol. 2014; 6: 20-28
- Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.Orphanet J Rare Dis. 2017; 12: 104
- Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.Korean J Intern Med. 2019; 34: 830-840
- Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.Cancer Sci. 2015; 106: 315-323
- 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.Cancer Cell. 2002; 2: 157-164
- H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.Hum Mol Genet. 2017; 26: 354-366
- Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.Am J Hum Genet. 2005; 76: 1023-1033
- A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.Eur J Hum Genet. 2021; 29: 1595-1600
- Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn.Proc Natl Acad Sci U S A. 2015; 112: E1624-E1631
- Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.Proc Natl Acad Sci U S A. 2006; 103: 15552-15557
- Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.PLoS Genet. 2020; 16e1009187
- Genome-wide uniparental disomy and copy number variations in renal cell carcinomas associated with Birt-Hogg-Dubé syndrome.Am J Pathol. 2016; 186: 337-346
- High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.J Natl Cancer Inst. 2005; 97: 931-935