Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the develop...

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Autores principales: Kim, Kyung Soo, Choi, Hang Jun, Jang, Woori, Chae, Hyojin, Kim, Myungshin, Moon, Seok Whan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Thoracic and Cardiovascular Surgery 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628968/
https://www.ncbi.nlm.nih.gov/pubmed/29124032
http://dx.doi.org/10.5090/kjtcs.2017.50.5.386
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author Kim, Kyung Soo
Choi, Hang Jun
Jang, Woori
Chae, Hyojin
Kim, Myungshin
Moon, Seok Whan
author_facet Kim, Kyung Soo
Choi, Hang Jun
Jang, Woori
Chae, Hyojin
Kim, Myungshin
Moon, Seok Whan
author_sort Kim, Kyung Soo
collection PubMed
description Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.
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spelling pubmed-56289682017-11-09 Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene Kim, Kyung Soo Choi, Hang Jun Jang, Woori Chae, Hyojin Kim, Myungshin Moon, Seok Whan Korean J Thorac Cardiovasc Surg Case Report Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN. The Korean Society for Thoracic and Cardiovascular Surgery 2017-10 2017-10-05 /pmc/articles/PMC5628968/ /pubmed/29124032 http://dx.doi.org/10.5090/kjtcs.2017.50.5.386 Text en Copyright © 2017 by The Korean Society for Thoracic and Cardiovascular Surgery. All rights Reserved. This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kim, Kyung Soo
Choi, Hang Jun
Jang, Woori
Chae, Hyojin
Kim, Myungshin
Moon, Seok Whan
Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
title Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
title_full Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
title_fullStr Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
title_full_unstemmed Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
title_short Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
title_sort birt-hogg-dubé syndrome manifesting as spontaneous pneumothorax: a novel mutation of the folliculin gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628968/
https://www.ncbi.nlm.nih.gov/pubmed/29124032
http://dx.doi.org/10.5090/kjtcs.2017.50.5.386
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