Title: Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene
Authors: Dardour, Leila
Verleyen, Pieter
Lesage, Karl
Holvoet, Maureen
Devriendt, Koenraad # ×
Issue Date: Oct-2016
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:59 issue:10
Article number: S1769-7212(16)30109-4
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.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Departement Verpleegkunde & Vroedkunde - HIVV - VIVES Zuid
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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