Novel FOXF1 Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. Issue 11 (4th September 2013)

• Record Type: Journal Article
• Authors: Szafranski, Przemyslaw; Yang, Yaping; Nelson, Melissa U.; Bizzarro, Matthew J.; Morotti, Raffaella A.; Langston, Claire; Stankiewicz, Paweł
• Is Part Of: Human mutation. Volume 34:Issue 11(2013:Nov.)
• Page Start: 1467
• Page End: 1471
• Publication Date: 2013-09-04
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22395
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22395-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Haploinsufficiency of <italic>FOXF1</italic> causes neonatal lethal Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV). We report a novel pathogenic <italic>FOXF1</italic> deep intronic deletion that did not affect major splicing sites. Results of the <italic>in vitro</italic> minigene‐based splicing and reporter assays performed in normal fetal lung fibroblasts suggest that the deletion likely compromised the intronic element(s) apparently regulating <italic>FOXF1</italic> transcription. Our data further emphasize the importance of inclusion of non‐coding regions of the human genome in diagnostic testing. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3j6prkjs" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>