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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.