Clinic Examination and Gene Diagnosis for a Birt-Hogg-Dube Syndrome Family With a Novel <i>flcn</i> Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation.

ABSTRACT: Background: Birt-Hogg-Dubé syndrome (BHD) was an autosomal dominant disorder caused by a mutation in the folliculin (FLCN) gene and characterized by benign cutaneous fibrofolliculomas in the head and neck, pulmonary cysts, spontaneous pneumothorax, and combined renal tumors. Methods: This study reported a familial case presenting multiple pulmonary bullae, recurrent spontaneous pneumothorax, diffuse cystic lesions in both lungs, and renal cysts. To further clarify the diagnosis, next-generation sequencing (NGS) was performed in conjunction with the clinical diagnostic criteria for Birt-Hogg-Dubé. The eukaryotic recombinant expression vectors of pEGFP-C1-FLCN and knock-in FLCN mutation by CRISPR/Cas9 were conducted in 293 T and BEAS-2B cell lines. The mRNA

SUBMITTER: Xu Y 

PROVIDER: S-EPMC12267975 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature