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   Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation  
   
نویسنده Rossing Maria ,Albrechtsen Anders ,Skytte Anne-Bine ,Jensen Uffe B ,Ousager Lilian B ,Gerdes Anne-Marie ,Nielsen Finn C ,Hansen Thomas vO
منبع journal of human genetics - 2017 - دوره : 62 - شماره : 2 - صفحه:151 -157
چکیده    Pathogenic germline mutations in the folliculin (flcn) tumor suppressor gene predispose to birt–hogg–dubé (bhd) syndrome, a rare disease characterized by the development of cutaneous hamartomas (fibrofolliculomas), multiple lung cysts, spontaneous pneumothoraces and renal cell cancer. in this study, we report the identification of 13 variants and three polymorphisms in the flcn gene in 143 danish patients or families with suspected bhd syndrome. functional mini-gene splicing analysis revealed that two intronic variants (c.1062+2t>g and c.1177-5_1177-3del) introduced splicing aberrations. eleven families exhibited the c.1062+2t>g mutation. combined single nucleotide polymorphism array-haplotype analysis showed that these families share a 3-mb genomic fragment containing the flcn gene, revealing that the c.1062+2t>g mutation is a danish founder mutation. on the basis of in silico prediction and functional splicing assays, we classify the 16 identified variants in the flcn gene as follows: nine as pathogenic, one as likely pathogenic, three as likely benign and three as polymorphisms. in conclusion, the study describes the flcn mutation spectrum in danish bhd patients, and contributes to a better understanding of bhd syndrome and management of bhd patients.
آدرس University of Copenhagen, Denmark, University of Copenhagen, Department of Biology, Denmark, Aarhus University Hospital, Denmark, Aarhus University Hospital, Denmark, Odense University Hospital, Denmark, University of Copenhagen, Denmark, University of Copenhagen, Denmark, University of Copenhagen, Denmark
 
     
   
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