Case Report of Birt-Hogg-Dube Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.

ABSTRACT: Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for whole exon sequencing performed by Sanger sequencing. Eight mutations, including 5 mutations, which were mapped in noncoding region, 1 synonymous mutation, and 2 missense mutations, were detected in the FLCN gene in both patients. The 2 missense mutations, predicted to be disease-causing mutation or affecting protein function by MutationTaster and SIFT, confirmed the diagnosis. In addition, the 2 pati

SUBMITTER: Dong L 

PROVIDER: S-EPMC4900704 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature