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

Authors
 Juwon Kim  ;  Jong-Ha Yoo  ;  Du-Young Kang  ;  Nam Joon Cho  ;  Kyung-A Lee 
Citation
 Gene, Vol.499(2) : 339-342, 2012 
Journal Title
 Gene 
ISSN
 0378-1119 
Issue Date
2012
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.
Full Text
http://www.sciencedirect.com/science/article/pii/S0378111912003356
DOI
10.1016/j.gene.2012.03.037
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
김주원(Kim, Ju Won)
이경아(Lee, Kyung A) ORCID logo https://orcid.org/0000-0001-5320-6705
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/90303
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