Table 2 Father-to-daughter transmission of OTC deficiency

[23]

c.119G > A (p.Arg40His)

< 3%

Japanese

II-10 (48y, fatal HA)

II-4 (48y, fatal HA)

IV- 2 (symptomatic)

I-2, II-12 (no clinical information)

III-4 and III-5 (asymptomatic)

II-4 > III-4

II-4 > III-5

I-2 > II-12

I-2 > II-4

I-2 > II-10

III-5 > IV-2

c.119G > A (p.Arg40His)

Japanese

I-1 (46y, fatal HA)

II-1 (17y, motor paresis, ID)

I-1 > II-1

c.119G > A (p.Arg40His)

3.4%

Japanese

III-1 (32y, fatal HA)

III-4 (21y, symptomatic)

I-2, II-2, II-4 (no clinical information)

IV-1 (asymptomatic)

III-4 > IV-1

I-2 > II-2

I-2 > II-4

II-2 > III-1

II-4 > III-4

c.163T > G (p.Tyr55Asp)

< 2%

Japanese

I-1 (46y, fatal HA)

(one individual hepatitis, 51y, one individual hepatoma, 68y)

II-1 (orotic aciduria after protein load)

I-1 > II-1

no

no

[23]

c.622G > A

(p.Ala208Thr)

American

I-1 (52y, fatal HA)

III-1 (NH₃ 182)

II-2 (NH₃ 265)

II-1 (no clinical information)

I-1 > II-1

II-1 > III-1

II-1 > III-2

[23]

c.622G > A

(p.Ala208Thr)

Italian

I-1 (66y, HA)

II-I (no clinical information)

I-1 > II-1

no

no

[23]

c.622G > A

(p.Ala208Thr)

Netherlands

IV-1 (67y, fatal HA)

VI-4, V-6, V-8

III-6, IV-4, IV-5, V-3, V-4 (no clinical information)

IV-1 > V-3

IV-1 > V-4

II-3 > III-6

V-4 > VI-4

IV-4 > V-6

IV-4 > V-8

[23]

c.622G > A

(p.Ala208Thr)

3%

Polish

I-9 (asymptomatic)

IV-14, V-4 (orotic aciduria after allopurinol test)

IV-7 (14y, fatal HA)

II-2, II-4, II-9, III-7, III-9, III-18, IV-6 (asymptomatic)

(IV-6: orotic aciduria)

I-9 > II-2

I-9 > II-4

I-9 > II-9

II-4 > III-7

II-4 > III-9

II-4 > III-15

II-4 > III-18

II-6 > III-17

II-6 > III-18

II-9 > III-19

III-7 > IV-6

III-9 > IV-9

III-7 > IV-7

III-18 > IV-14

IV-6 > V-4

[23]

c.622G > A

(p.Ala208Thr)

4%

Netherlands

I-1, III-1, IV-3, IV-9 (asymptomatic)

III-1, IV-3, IV-9 (orotic aciduria)

IV-5 (10y, fatal HA)

II-1, II-4, III-2, III-3, III-4, IV-6 (asymptomatic)

III-2 (orotic aciduria)

I-1 > II-2

I-1 > II-4

II-1 > III-2

II-1 > III-3

III-3 > IV-6

II-1 > III-1

III-2 > IV-3

III-3 > IV-5

III-4 > IV-9

[23]

c.622G > A

(p.Ala208Thr)

Japanese

IV-1 (6y, fatal HA)

II-5 (68y, fatal HA)

III-2, III-3, IV-3 (no clinical information)

II-5 > III-2

II-5 > III-3

III-2 > IV-3

III-2 > IV-1

[23]

c.622G > A

(p.Ala208Thr)

French

III-1, III-2 (no clinical information)

I-1 (no clinical information)

II-2 (49y, severe HA)

III-3 (21y, asymptomatic)

II-2 > III-3

suspected

I-1 > II-2

II-1 > III-1

II-1 > III-2

Family 1

c.622G > A

(p.Ala208Thr)

Italian

II-1 (migraine, aphasia, weakness),

II-2 (67y, HA)

III-1 (43y, fatal HA)

III-4, III-6 (migraine, irritability, asthenia)

II-1 > III-1

II-1 > III-4

II-2 > III-6

no

no

Family 2

c.1033T > C

(p.Tyr345His)

Italian

II-5 (confusion, abnormal behaviour)

III-1, III-2 (asymptomatic)

III-6 and III-10 (migraine, asthenia, irritability)

II-5 > III-6

II-7 > III-10

III-1 > IV-2

III-2 > IV-3

III-2 > IV-4

IV-2 > V-3