| Literature DB >> 27633572 |
Leila Dardour1, Pieter Verleyen2, Karl Lesage2, Maureen Holvoet3, Koen Devriendt4.
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.Entities:
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Year: 2016 PMID： 27633572 DOI： 10.1016/j.ejmg.2016.09.005
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708