Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization

This study describes an original pathological mechanism by which a small intronic deletion leads to Alu exonization. We identified an intronic deletion, c.2113+461_2113+473del, in the F8 intron 13, in two individuals with mild hemophilia A. In  vivo and in vitro transcript analysis found an aberrant transcript, with an insertion of a 122-bp intronic fragment (c.2113_2114ins2113+477_2113+598) at the exon 13–14 junction.

Source: The American Journal of Human Genetics - January 18, 2018 Category: Genetics & Stem Cells Authors: Yohann Jourdy, Alexandre Janin, Mathilde Fretigny, Anne Lienhart, Claude N égrier, Dominique Bozon, Christine Vinciguerra Tags: Article Source Type: research