[R74W;R1070W;D1270N]: A new complex allele responsible for cystic fibrosis

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• 作者：Ana de Prada Merino ; Florence Niel Bü ; tschi ; Isabelle Bouchardy ; Jacques S. Beckmann ; Michael A. Morris ; Gaudenz M. Hafen ; Florence Fellmann
• 关键词：Complex allele ; R74W ; D1270N ; R1070W ; CFTR ; Cystic fibrosis
• 刊名：Journal of Cystic Fibrosis
• 出版年：2010
• 出版时间：December 2010
• 年：2010
• 卷：9
• 期：6
• 页码：447-449
• 全文大小：86 K

文摘

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.