Birt-Hogg-Dube syndrome in two Chinese families with mutations in the FLCN gene.

ABSTRACT:

Background

Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer.

Methods

Genomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Genetic analysis was performed by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations of these two families.

Results

In this study, we performed genetic analysis by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explo

SUBMITTER: Hou X 

PROVIDER: S-EPMC5776768 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature