Table 1 DYRK1A mutations reported in the literature
Paper | # of patients | Types of mutations |
|---|---|---|
Bartsch et al 1997 [7] | 1 | Translocation |
Matsumoto et al 1997 [6] | 1 | Deletion |
Møller et al 2008 [8] | 2 | 2 translocations |
Fujita et al 2010 [9] | 1 | Deletion |
Oegema et al 2010 [10] | 2 | 2 deletions |
Yamamoto et al 2011 [11] | 3 | 3 deletions |
van Bon et al 2011 [12] | 1 | Deletion |
Valetto et al 2012 [13] | 1 | Deletion |
Courcet et al 2012 [14] | 2 | 1 deletion, 1 frameshift |
O’Roak et al 2012 [15] | 3 | 2 frameshifts, 1 splice site |
Okamoto et al 2015 [27] | 1 | Nonsense |
Redin et al 2014 [16] | 2 | 1 nonsense, 1 frameshift |
Iglesias et al 2014 [17] | 1 | Nonsense |
Ruaud et al 2015 [19] | 2 | 1 nonsense, 1 missense |
van Bon et al 2015 [18] | 5 | 2 nonsense, 3 splice site |
Bronicki et al 2015 [20] | 10 | 3 nonsense, 2 missense, 4 frameshift, 1 deletion |
Ji et al 2015 [21] | 14 | 3 nonsense, 3 missense, 3 frameshift, 5 deletions |