Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 + 10kbCT: significance for geneticists
| Autor: | Kathleen Valverde, Leonard J. Rossoff, Fred Gilbert, Iordanis I. Arzimanoglou, Zhen Li, Martin G. Bialer, Jack Gorvoy, Joyce Honorof, Lynne Quittell, Celia Ores, Carolyn Denning |
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| Rok vydání: | 1995 |
| Předmět: |
Adult
Pancreatic disease Adolescent Cystic Fibrosis Genotype Population Biology Gene mutation Compound heterozygosity Cystic fibrosis Chlorides Forced Expiratory Volume medicine Humans Mutation frequency education Child Sweat Genetics (clinical) Sweat test Genetics education.field_of_study medicine.diagnostic_test Sodium medicine.disease Pancreatic Function Tests Phenotype Child Preschool Mutation (genetic algorithm) Mutation |
| Zdroj: | American journal of medical genetics. 58(4) |
| ISSN: | 0148-7299 |
| Popis: | We describe patients inheriting cystic fibrosis (CF) mutation 3849 + 10kb > T as homozygotes or compound heterozygotes. Three unrelated homozygotes for this mutation were all pancreatic-sufficient and sweat test-negative or inconclusive. Among the compound heterozygotes, both pancreatic sufficiency and insufficiency, as well as positive and negative/inconclusive sweat test results are reported, expanding the range of clinical expression associated with inheritance of this mutation. 3849 + 10kbC > T is one of several CF mutations that can result in atypical or variant forms of CF. For geneticists, the diagnosis of variant CF has implications for recurrence risk and prognosis counseling of the families of affected individuals, and possibly for CF carrier screening in the general population. |
| Databáze: | OpenAIRE |
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