Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.

ABSTRACT:

Rationale

Birt-Hogg-Dubé (BHD) syndrome, a rare inherited autosomal genodermatosis first recognised in 1977, is characterised by fibrofolliculomas of the skin, an increased risk of renal tumours and multiple lung cysts with spontaneous pneumothorax. The BHD gene, a tumour suppressor gene located at chromosome 17p11.2, has recently been shown to be defective. Recent genetic studies revealed that clinical pictures of the disease may be variable and may not always present the full expression of the phenotypes.

Objectives

We hypothesised that mutations of the BHD gene are responsible for patients who have multiple lung cysts of which the underlying causes have not yet been elucidated.

Methods

We studied eight patients with lung cysts, without skin and renal disease; seven

SUBMITTER: Gunji Y 

PROVIDER: S-EPMC2597956 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature