Dataset Information
NHLBI GO-ESP: Family Studies (JHMI-Molecular Genetics of Atypical Cystic Fibrosis (CF) Study)
Ontology highlight
ABSTRACT: The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. Cystic fibrosis (CF) patients without detectable disease-causing mutations in CFTR present a clinical phenotype very similar to, but possibly discrete from, classic CF. We hypothesize that the phenotype of these atypical CF patients is not due only to mutations in the carbonic anhydrase gene CA12 or in the genes encoding the epithelium sodium ion channel ENaC, but is due to mutations in novel genes that have yet to be associated with CF. The goal of this study is to determine the molecular etiology of this atypical CF.
PROVIDER: phs000556.v1.p1 | EGA |
REPOSITORIES: EGA
Publications
Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.
The Journal of pediatrics 20050501 5
<h4>Objective</h4>To determine which features of incomplete or "nonclassic" forms of cystic fibrosis (CF) are associated with deleterious CF transmembrane conductance regulator gene ( CFTR ) mutations, and to explore other etiologies for features not associated with deleterious CFTR mutations.<h4>Study design</h4>Clinical features were compared between 57 patients with deleterious mutations in each CFTR and 63 with no deleterious mutations. The Shwachman Bodian Diamond syndrome gene ( SBDS ) was ...[more]
