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Article

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

European journal of medical genetics - 1 Oct 2016

Dardour Leila, Verleyen Pieter, Lesage Karl, Holvoet Maureen, Devriendt Koen

Abstract excerpt

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...

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Source

Identifiers

PMID: 27633572
DOI: 10.1016/j.ejmg.2016.09.005

Genes

FLCN
SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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