L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis
- McGill Univ., Montreal, Quebec (Canada); and others
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Over 400 mutations have been reported at this locus. Although severe forms of cystic fibrosis are usually associated with pancreatic insufficiency, pulmonary dysfunction, and elevated sweat chloride, there is a wide range of phenotypes, including congenital absence of the vas deferens, observed with some of the milder mutations. The L206W mutation, which was first identified in patients from South France, is relatively frequent in French Canadians from Quebec. In this report, we document the atypical form of cystic fibrosis associated with this mutation in a cohort of 7 French Canadian probands. 20 refs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 105209
- Journal Information:
- American Journal of Medical Genetics, Vol. 57, Issue 3; Other Information: PBD: 3 Jul 1995
- Country of Publication:
- United States
- Language:
- English
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