Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene

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• 作者：Leila Dardour^a ; ^{leiladardour.ferhi@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Pieter Verleyen^b ; Karl Lesage^b ; Maureen Holvoet^a ; Koen Devriendt^a ; ^{koenraad.devriendt@uzleuven.be" class="auth_mail" title="E-mail the corresponding author}
• 刊名：European Journal of Medical Genetics
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：59
• 期：10
• 页码：499-501
• 全文大小：443 K

文摘

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.