Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax.

ABSTRACT:

Background

Familial spontaneous pneumothorax (FSP) is an inherited disease, and Birt-Hogg-Dubé (BHD) syndrome is its leading cause. BHD syndrome is an autosomal dominant disorder characterized by pulmonary cysts, spontaneous pneumothorax, renal cancer, and skin fibrofolliculomas. It is caused by germline mutations in the FLCN gene. Thus far a variety of mutations have been reported; however, the unique characteristics of BHD syndrome-related FSP are still unclear.

Method

We reviewed the family history of a large Chinese family that presented with FSP. Genetic testing of the FLCN gene was performed and the special clinical characteristics of BHD syndrome-related FSP were discussed.

Results

This family comprised 5 generations and 76 members. Six of these h

SUBMITTER: Xing H 

PROVIDER: S-EPMC5542951 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature