[R74W;R1070W;D1270N]: A new complex allele responsible for cystic fibrosis
| Autor: | Gaudenz Hafen, Jacques S. Beckmann, Michael A. Morris, Isabelle Bouchardy, Florence Niel Bütschi, Ana de Prada Merino, Florence Fellmann |
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| Rok vydání: | 2010 |
| Předmět: |
Pulmonary and Respiratory Medicine
Heterozygote Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Disease pathogenesis Bioinformatics medicine.disease_cause Cystic fibrosis Humans Medicine Functional studies Pediatrics Perinatology and Child Health R1070W CFTR Allele Alleles Genetics Mutation business.industry Infant R74W medicine.disease Complex allele Morocco D1270N Clinical diagnosis Pediatrics Perinatology and Child Health Female Population screening business |
| Zdroj: | Journal of Cystic Fibrosis. 9(6):447-449 |
| ISSN: | 1569-1993 |
| DOI: | 10.1016/j.jcf.2010.08.014 |
| Popis: | Since the beginning of population screening for CF carriers, it has become apparent that complex CFTR alleles are not uncommon. Deciphering their impact in disease pathogenesis remains a challenge for both clinicians and researchers. We report the observation of a new complex allele p.[R74W+R1070W+D1270N] found in trans with a type 1 mutation and associated with clinical diagnosis of cystic fibrosis in a one year-old Moroccan patient. This case underlines the difficulties in counseling patients with uncommon mutations and the necessity of functional studies to evaluate the structure–function relationships, since the association of several variations in cis can dramatically alter CFTR function. |
| Databáze: | OpenAIRE |
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