Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation

Cystic fibrosis (CF) has a high incidence in the French-Canadian population of Saguenay Lac-Saint-Jean (Quebec). The A455E mutation accounts for 8.3% of the CF chromosomes. This mutation was shown to be associated with a milder lung disease in the Dutch population. Twenty two CF patients distributed...

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Bibliographic Details
Published in:Human genetics 1997-12, Vol.101 (2), p.208-211
Main Authors: DE BRAEKELEER, M, ALLARD, C, LEBLANC, J.-P, SIMARD, F, AUBIN, G
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Canada
Child
Child, Preschool
Cystic Fibrosis - complications
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Exocrine Pancreatic Insufficiency - complications
Exocrine Pancreatic Insufficiency - genetics
Female
France - ethnology
Gastroenterology. Liver. Pancreas. Abdomen
Genotype
Heterozygote
Humans
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Matched-Pair Analysis
Medical sciences
Mutation
Other diseases. Semiology
Phenotype
Respiratory Function Tests
Statistics, Nonparametric
Sweat - chemistry
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Summary:Cystic fibrosis (CF) has a high incidence in the French-Canadian population of Saguenay Lac-Saint-Jean (Quebec). The A455E mutation accounts for 8.3% of the CF chromosomes. This mutation was shown to be associated with a milder lung disease in the Dutch population. Twenty two CF patients distributed in 17 families and compound heterozygotes for the A455E mutation have been followed at the Clinique de Fibrose Kystique de Chicoutimi. Fourteen patients also carried the delta F508 mutation while the remaining eight patients had the 621 + 1G-->T mutation. Each patient was matched by sex and age to a patient homozygous for the delta F508 mutation. The pairs were analyzed for several clinical and laboratory variables. The A455E compound heterozygotes were diagnosed at a later age (P = 0.003) and had chloride concentrations at the sweat test lower than those homozygous for the delta F508 mutation (P = 0.007). More patients were pancreatic sufficient (P = 0.004). They had a higher Shwachman score (P = 0.001) and better pulmonary function tests (P < 0.02). CF patients compound heterozygous for the A455E mutation have a milder pancreatic and lung disease than the delta F508 homozygotes. Therefore, the A455E should be associated with a better prognosis.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050616