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Table 1 DYRK1A mutations reported in the literature

From: Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of 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