Activation of cryptic splice sites in three patients with chronic granulomatous disease

ConclusionWe found three different mutations, one exonic, one in a donor splice site and one intronic, that all caused missplicing of pre ‐mRNA. We analyzed these mutations with four different splice prediction programs and found that predictions of splice site strength, splice enhancer and splice silencer protein binding and branch site strength are all essential for correct prediction of pre‐mRNA splicing.

Source: Molecular Genetics & Genomic Medicine - July 29, 2019 Category: Genetics & Stem Cells Authors: Martin de Boer, Karin van Leeuwen, Mathias Hauri ‐Hohl, Dirk Roos Tags: ORIGINAL ARTICLE Source Type: research