Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences
| Autor: | X. Estivill, R. Llevadot, J. Gim�nez, V. Nunes, T. Casals, L. Ortigosa, J. P�rez-Frias, J. Dapena, J. Ferrer, J. Pe�a, L. Pe�a, N. Cobos, C. V�zquez |
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| Rok vydání: | 1995 |
| Předmět: |
Male
medicine.medical_specialty Pancreatic disease Cystic Fibrosis Genotype Vital Capacity Biology Arginine Compound heterozygosity Cystic fibrosis Forced Expiratory Volume Internal medicine Genetics medicine Humans Point Mutation Missense mutation Age of Onset Child Lung Genetics (clinical) Respiratory disease Tryptophan medicine.disease Cystic fibrosis transmembrane conductance regulator Phenotype Endocrinology Child Preschool biology.protein Exocrine Pancreatic Insufficiency Female Age of onset Intestinal Obstruction |
| Zdroj: | Human Genetics. 95 |
| ISSN: | 1432-1203 0340-6717 |
| Popis: | We present the genotype/phenotype correlation analysis for 16 cystic fibrosis (CF) patients who carry mutation R334W. Current age and age of diagnosis was significantly higher in the R334W/any-mutation group (P0.05 and P0.01), compared with the delta F508/delta F508 group. A slightly, but not significantly, worse lung function was found in the R334W/any-mutation group, when compared with the delta F508/delta F508 patients. The proportion of patients with lung colonization with bacterial pathogens was slightly, but not significantly, higher in the R334W/any-mutation group (71.4%), compared with the delta F508/delta F508 or R334W/delta F508 groups (55.5%). None of the R334W patients had meconium ileus but 60% were pancreatic insufficient (PI), a significantly lower proportion (P0.001) than delta F508/delta F508 patients. Two R334W/N1303K compound heterozygous sisters of three sibs with genotype R334W/delta F508 showed interfamilial discordant clinical data for lung and pancreatic function. The data provided here for mutation R334W demonstrate that this mutation is responsible for a less severe form of CF than delta F508. Interfamilial differences for PI and lung function suggest that other factors, viz. genetic, environmental and medical, contribute to the wide spectrum of clinical differences observed in CF patients with the same CF transmembrane conductance regulator genotypes. |
| Databáze: | OpenAIRE |
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