Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dube syndrome: a long-term follow-up study.

ABSTRACT: Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant disease, is caused by germline mutations in the folliculin (FLCN, NM_144997) gene. This rare disorder is characterized by a clinical triad, which includes fibrofolliculomas (FFs), renal cell carcinoma (RCC), and pulmonary manifestations such as multiple pulmonary cysts (PCs) and pneumothorax. To investigate the clinical features and genetic mutations of five unrelated BHDS families in a long-term follow-up study at the Second Xiangya Hospital of Central South University, five families and their affected patients, who met the clinical and histological criteria for BHDS and were confirmed to have FLCN germline mutations, were evaluated. All participants underwent a comprehensive physical examination along with other relevant

SUBMITTER: Kang X 

PROVIDER: S-EPMC12452094 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature