Minigene splicing assays and long-read sequencing to unravel pathogenic deep-intronic variants in pax6 in congenital aniridia

HIGHLIGHTS

SUMMARY

Congenital aniridia (MIM #106210) is a rare panocular disease with an estimated worldwide incidence of about 1 per 50,000 to 100,000 births. There is increasing evidence that defects in PAX6 pre-mRNA_splicing represent a major cause of aniridia, with more than 100 described splicing variants accounting for up to 15% of diseasecausing variants. Most of them affect conserved nucleotides at exon-intron boundaries, i.e., canonical acceptor or donor splicing sites (30 SS and 50 SS, respectively). Most of them negatively impact splicing by creating or enhancing exonic and deep-intronic NCSS . . .

 



If you want to have access to all the content you need to log in!

Thanks :)

Username or E-mail:

If you don't have an account, you can create one here.