Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax

Juwon Kim, Jong Ha Yoo, Du Young Kang, Nam Joon Cho, Kyung A. Lee

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease presenting with skin fibrofolliculomas, pulmonary cysts, primary spontaneous pneumothorax (PSP), and renal cancer. It is caused by germline mutations in the FLCN gene, which encodes folliculin. Here we report a novel in-frame deletion mutation p.F143del (c.427_429delTTC) in exon 6 of FLCN gene in the proband and her two sisters. The proband was a 40-year-old Korean woman who presented with right-sided pneumothorax and papular lesions on the face and neck area but without renal cancer. Her father also had a history of PSP and died of renal cancer at the age of 75. Her older sisters have been treated for recurrent PSP but did not have skin lesions suspicious of fibrofolliculoma. The relative expression of FLCN was significantly reduced in the proband and one of the sibling who was confirmed to have FLCN mutation. In-frame deletions in the FLCN gene have rarely been reported but have been shown to impose significant effect on protein stability of FLCN. Identification of a novel genotype in BHDS will provide clues to the phenotype-genotype relations and may aid in explaining the molecular pathogenesis of diseases related to FLCN mutation.

Original languageEnglish
Pages (from-to)339-342
Number of pages4
JournalGene
Volume499
Issue number2
DOIs
Publication statusPublished - 2012 May 15

All Science Journal Classification (ASJC) codes

  • Genetics

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