L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis

Journal Article · Mon Jul 03 04:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320570314· OSTI ID:105209

Rozen, R; Ferreira-Rajabi, L; Robb, L ^[1]

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1. 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, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 57; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CANADA
CONGENITAL MALFORMATIONS
GENE MUTATIONS
GENES
HEREDITARY DISEASES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
RECESSIVE MUTATIONS
RESPIRATORY SYSTEM DISEASES