. 2018 Aug 16;5:22. doi: 10.1038/s41439-018-0022-x

Table 1.

Patients with OTCD caused by somatic mosaicism

Patient	Sex	Mutation in the OTC gene	Phenotype	Reference
#1	Male	exon 5–7 (8) deletion	Late	Maddalena et al.¹¹
#2	Male	exon7–9 deletion	Late	Legius et al.¹²
#3	Male	c.444 G > C (p.L148F)	Asymptomatic	Komaki et al.¹³
#4	Male	c.386+1 G > T	Late	Qin et al.¹⁴
#5	Male	c.1046 T > C (p.L349P)	Asymptomatic	Qin et al.¹⁴
#6	Male	c.834_840delCCAGGCT (p.Q279fs)	Late	Current patient