Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

ABSTRACT:

Objective

To determine whether individuals with primary ciliary dyskinesia (PCD) from unrelated Amish and Mennonite families harbor a single and unique founder mutation.

Study design

Subjects from Amish and Mennonite communities in several states were enrolled in the study. All subjects were clinically characterized, and nasal nitric oxide levels were measured. Nasal epithelial scrapings were collected from several subjects for ciliary ultrastructural analyses. DNA was isolated from patients with PCD and their unaffected first- and second-degree relatives. Genome-wide homozygosity mapping, linkage analyses, targeted mutation analyses, and exome sequencing were performed.

Results

All subjects from Old-Order Amish communities from Pennsylvania were homozygous for a nons

SUBMITTER: Ferkol TW 

PROVIDER: S-EPMC3725203 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature