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CF shows variable expressivity in affected individuals, but it typically causes respiratory and digestive complications as well as congenital bilateral absence of the vas deferens in males. Individuals with classic CF usually have variants that produce a defective protein from both alleles of the <jats:italic>CFTR<\/jats:italic> gene. Individuals with other variants may present with classic, non-classic, or milder forms of CF due to lower levels of functional <jats:italic>CFTR<\/jats:italic> protein. This article reports the genetic analysis of a female with features of asthma and mild or non-classic CF. <jats:italic>CFTR<\/jats:italic> sequencing demonstrated that she is a carrier for a maternally derived 5T\/12TG variant. Deletion\/duplication analysis by multiplex ligation-dependent probe amplification (MLPA) showed the presence of an intragenic paternally derived duplication involving exons 7\u201311 of the <jats:italic>CFTR<\/jats:italic> gene. This duplication is predicted to result in the production of a truncated <jats:italic>CFTR<\/jats:italic> protein lacking the terminal part of the nucleotide-binding domain 1 (NBD1) and thus is likely to be a non-functioning allele. The combination of this large intragenic duplication and 5T\/12TG is the probable cause of the mild or non-classic CF features in this individual.<\/jats:p>","DOI":"10.1038\/srep38776","type":"journal-article","created":{"date-parts":[[2016,12,20]],"date-time":"2016-12-20T10:56:14Z","timestamp":1482231374000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Intragenic CFTR Duplication and 5T\/12TG Variant in a Patient with Non-Classic Cystic Fibrosis"],"prefix":"10.1038","volume":"6","author":[{"given":"Patricia B. 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