Gene test confirmed a heterozygous germline FLCN nonsense mutation (c.1429C>T, p.Arg477Ter). The patient is still doing well after 20months of follow-up (cut-off date July 2022). Conclusion:This is a case of BHD syndrome presented with bilateral renal tumor, renal cysts, and multiple ...
spontaneouspneumothoraxwithandwithoutFLCNgenemutation.Method:Weinvestigated retrospectivelyclinicalrecordsfrom208patientswithprimaryspontaneouspneumothorax,andtheir peripheralbloodsampleswerecollectedtotestforFLCNgenemutation.Twogroups,patientswith andwithoutmutations,wereanalyzedbystatisticalmethods.Result:20/208patients(9.6%)...
Folliculin (FLCN) has long been studied as a tumor suppressor gene responsible for the human autosomal dominant genetic disorder Birt-Hogg-Dubé (BHD) syndrome14. Affected individuals are at risk of developing of kidney cancers, lung cysts, and cutaneous fibrofolliculomas15,16. FLCN encoded by t...
Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are t
deficiency disorders (29,30). On the other hand, high iron can be toxic by generating deleteriousreactive oxygen species(ROS). Therefore, cells have evolved sophisticated mechanisms to control the iron pool (31). The promoter region of theTfR1gene contains ahypoxiaresponse element(HRE). Hypoxia...