Skip to main content

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

From: Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

Patient (sex; origin) Mutation Exon Functional domain Comment Mutation reference Genetic family testing
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 km 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
  1. Abbreviations: M male, F female, CP carbamyl phosphate, ORN ornithine, S strand or β-sheet, Hα-helix, HT heterozygous, HM hemizygous, WT wild type, y years of family members at the time of the proband’s acute episode.