Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.
Journal of Cystic Fibrosis
Publication types: Journal Article Publication Status: ppublish
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.
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