Large ABCA3 and SFTPC deletions resulting in lung disease.

ABSTRACT:

Rationale

Mutations in genes encoding proteins important in the function and metabolism of pulmonary surfactant are recognized causes of lung disease. Clinical genetic testing is available for these disorders, but children with phenotypes consistent with surfactant dysfunction and no identifiable mutations in the known causative genes have been reported.

Objectives

To identify the mechanism(s) for lung disease in two children with the phenotype of surfactant dysfunction who had negative testing in clinical laboratories for gene mutations causing surfactant dysfunction.

Methods

Amplicons spanning multiple exons of candidate genes were generated by polymerase chain reaction and sequenced.

Measurements and main results

A 4,335-base deletion that included all of ex

SUBMITTER: Henderson LB 

PROVIDER: S-EPMC3960967 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature