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Table 3 Deleterious mutations in OTC genes

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  
  1. M: male; F: female. NB: two families with asymptomatic fathers who transmitted R40H mutations to their asymptomatic daughters.