From: Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Neonatal-onset form | Group (1 mth-16 y) | Group >16 y | Carriers | |
---|---|---|---|---|
Deleterious mutations | 22 | 30 | 7 | 52 |
10 F / 42 M | ||||
• Single base substitution | 14 | 21 | 6 | |
• Small deletions | 0 | 3 | 1 | |
• Large deletions | 0 | 3 | 0 | |
• Complete deletions | 4 | 0 | 0 | |
• Splice site mutations | 4 | 3 | 0 | |
Recurrent mutations | R40H :0 | R40H :4 | R40H :4 | R40H :20 |
T178M :1 M | T178M :2 F | T178M :1 F | T178M :6 F | |
De novo mutations | 8 | 10 | 4 | |
X-linked mutations | 14 | 20 | 3 | |
Mutations transmitted by father | 0 | 0 | 0 |