Table 1
Summary of NSD1 mutations identified in 30 patients with Sotos syndrome
| Mutation | Amino acid change | Exon | Patient | Origin | Type of mutation |
|---|---|---|---|---|---|
| NC, not confirmed because parental DNA was not available for analysis. | |||||
| Insertion | |||||
| 4769insT | Frameshift | 13 | SoS122 | Japanese | De novo |
| Deletion | |||||
| 1807delT | Frameshift | 5 | SoS127 | Japanese | NC |
| 2053–2057del | Frameshift | 5 | SoS121 | Japanese | NC |
| 3273delT | Frameshift | 5 | SoS150 | Israeli-Arab | NC |
| Nonsense | |||||
| 1130G→A | W377X | 4 | SoS154 | Austrian | NC |
| 3886A→T | K1296X | 6 | SoS153a | Canadian-Hutterite | De novo |
| 3964C→T | R1322X | 7 | SoS147 | Brazilian | De novo |
| 5229G→A | W1743X | 15 | SoS155 | Croatian | NC |
