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Article

Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.

BMC medical genomics - 2 May 2018

Furuya Mitsuko, Kobayashi Hironori, Baba Masaya, Ito Takaaki, Tanaka Reiko, Nakatani Yukio

Abstract excerpt

BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site mutations have been reported, and previous studies have confirmed exon skipping in several cases. However, it is poorly...

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Identifiers

PMID: 29720200
DOI: 10.1186/s12920-018-0359-5
PMCID: PMC5930857

Genes

FLCN

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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