Table 3 OTC gene mutations identified in adult OTCD patients with fatal encephalopathy

Pt 1 (M; Italy)

c.119G > T (p.Arg40Leu)

2

Polar/CP binding domain (S1)

CpG dinucleotide

This report

Three HT females: mother (76 y), two nieces (13 and 22 y); HM brother (50 y); WT sister

Pt 2 (M; Italy and Japan)

c.119G > A (p.Arg40His)

2

Polar/CP binding domain (S1)

CpG dinucleotide; protein degradation under certain conditions; reported OTC activity 6%

[[17]]

Not performed

Pt 3 (M; Italy)

c.314G > A (p.Gly105Glu)

4

Polar/CP binding domain (turn)

-

This report

HT mother (43 y); HM grandfather (80 y); WT brother

Pt 4 (M; Italy)

c.622G > A (p.Ala208Thr)

6

Equatorial/ORN binding domain (H6)

CpG dinucleotide; reported OTC activity 4%

[[19]]

HT daughter (36 y)

Pt 5 (F; Italy)

c.829C > T (p.Arg277Trp)

8

Equatorial/ORN binding domain (H9), flexible loop

CpG dinucleotide; increased k_m for ORN; reported OTC activity 5%

[[20]]

Three HT females: mother (72 y), sister (42 y) and niece (18 y); six WT females and two WT males