biostudies-literatureUnknown2025Xu Y<b>Background:</b> Birt-Hogg-Dubé syndrome (BHD) was an autosomal dominant disorder caused by a mutation in the folliculin (<i>FLCN</i>) gene and characterized by benign cutaneous fibrofolliculomas in the head and neck, pulmonary cysts, spontaneous pneumothorax, and combined renal tumors. <b>Methods:</b> 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-<i>FLCN</i> and knock-in <i>FLCN</i> mutation by CRISPR/Cas9 were conducted in 293 T and BEAS-2B cell lines. The mRNAHuman mutation7194418https://www.ebi.ac.uk/biostudies/studies/S-EPMC12267975biostudies-literatureClinic Examination and Gene Diagnosis for a Birt-Hogg-Dube Syndrome Family With a Novel &lt;i&gt;flcn&lt;/i&gt; Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation.PMC12267975Ding GYang GGao JAn YZou CXu YfalseClinic Examination and Gene Diagnosis for a Birt-Hogg-Dube Syndrome Family With a Novel &lt;i&gt;flcn&lt;/i&gt; Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation.<b>Background:</b> Birt-Hogg-Dubé syndrome (BHD) was an autosomal dominant disorder caused by a mutation in the folliculin (<i>FLCN</i>) gene and characterized by benign cutaneous fibrofolliculomas in the head and neck, pulmonary cysts, spontaneous pneumothorax, and combined renal tumors. <b>Methods:</b> 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-<i>FLCN</i> and knock-in <i>FLCN</i> mutation by CRISPR/Cas9 were conducted in 293 T and BEAS-2B cell lines. The mRNA2025-01-01T00:00:00Z20252026-03-27T15:55:28.027Z2025-08-24T03:09:11.144ZS-EPMC122679754067792810.1155/humu/7194418