Table 1 Analysis of KMT2A mutations in Wiedemann-Steiner syndrome vs ID/DD
From: A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia
Wiedemann-Steiner syndrome (%) | ID/DD (%) | This study (ID/DD) | |
|---|---|---|---|
Missense | 14 (20.9%) | 8 (32)* | |
Nonsense | 22 (32.8)* | 5 (20) | |
Splicing | 4 (6.0) | 2 (8) | |
Small deletion | 18 (26.9) | 8 (32) | 1 |
Small insertion | 7 (10.4) | 2 (8) | |
Gross deletion | 2 (2.9) | 0 (0) | |
Total LoF alleles | 53 (79.1)* | 17 (68) | 1 |
Total mutations | 67 | 25 | 1 |