A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14

The deep intronic c.903+469T>C mutation

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

✍ Katerina Homolova; Petra Zavadakova; Thomas Koed Doktor; Lisbeth Dahl Schroeder; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB

Deep intronic mutations are often ignored as possible causes of human diseases. A deep intronic mutation in the MTRR gene, c.9031469T4C, is the most frequent mutation causing the cblE type of homocystinuria. It is well known to be associated with pre-mRNA missplicing, resulting in pseudoexon inclusi