title: Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.
abstract: Smith-Magenis syndrome (SMS) is a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. We report a 57 year-old man with SMS who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors. The present observation suggests that the follow-up of patients with SMS should also focus on possible manifestations of BHDS.
authors.affiliation: Center for Human Genetics, KU Leuven, Leuven, Belgium. Electronic address: leiladardour.ferhi@gmail.com.
authors.forename: Leila
authors.initials: L
authors.lastname: Dardour
authors.affiliation: Center for Urology, AZ Groeninge, Kortrijk, Belgium.
authors.forename: Pieter
authors.initials: P
authors.lastname: Verleyen
authors.affiliation: Center for Urology, AZ Groeninge, Kortrijk, Belgium.
authors.forename: Karl
authors.initials: K
authors.lastname: Lesage
authors.affiliation: Center for Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Maureen
authors.initials: M
authors.lastname: Holvoet
authors.affiliation: Center for Human Genetics, KU Leuven, Leuven, Belgium. Electronic address: koenraad.devriendt@uzleuven.be.
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease; D057895:Haploinsufficiency / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000473:pathology; D007680:Kidney Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017384:Sequence Deletion; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D058496:Smith-Magenis Syndrome / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins