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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Detalles Bibliográficos
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
Descripción
Sumario: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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