{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["2025"],"submitter":["Xu Y"],"pubmed_abstract":["<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 mRNA"],"journal":["Human mutation"],"pagination":["7194418"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12267975"],"repository":["biostudies-literature"],"pubmed_title":["Clinic 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."],"pmcid":["PMC12267975"],"pubmed_authors":["Ding G","Yang G","Gao J","An Y","Zou C","Xu Y"],"additional_accession":[]},"is_claimable":false,"name":"Clinic 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.","description":"<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 mRNA","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-03-27T15:55:28.027Z","creation":"2025-08-24T03:09:11.144Z"},"accession":"S-EPMC12267975","cross_references":{"pubmed":["40677928"],"doi":["10.1155/humu/7194418"]}}