A novel mutation in the FLCN gene in a chinese family with Birt-Hogg-Dubé(BHD) syndrome

Abstract

Background Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited syndrome caused by folliculin (FLCN) mutation, and FLCN is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with BHDS. Methods A chinese proband was diagnosed with BHDS for renal tumors, a novel variant in the FLCN gene was identified by next-generation sequencing (NGS). Sanger sequencing was conducted on blood samples from family members to validate the presence of this mutation. Results A novel germline frameshift variant (NM_144997.5:c.977dup) was detected in affected family members. Additionally, a somatic frameshift mutation (NM_144997.5:c.1252del) was also detected in the renal tumors of the proband. No mutation was detected in unaffected family members. The mutation seems to be more likely to develop BHDS-associated renal tumors. Conclusions A novel mutation was detected in the FLCN gene. It expands the spectrum of FLCN mutations, provides insights into genotype-phenotype correlations of BHDS and a basis for the diagnosis value of testing for FLCN mutations in patients with suspected BHDS.