Table 1.

Outcomes in male infants with OTC deficiency due to contiguous gene deletion syndromes

Reference	Deletion size, OMIM genes	Number of affected males	Positive family history?	Age at death
Gallant et al. (2015)	1.87-Mb deletion of XK, CYBB, RPGR, OTC, and TSPAN7	One	No	7 days old
Jain-Ghai et al. (2015)	0.74-Mb deletion of RPGR, OTC, and TSPAN7	One	Yes – older sister with known OTC deficiency	14 months old
Ono et al. (2010)	1-Mb deletion of RPGR, OTC, and TSPAN7	One	No	16 days old
Quental et al. (2009)	209-kb deletion of OTC and part of TSPAN7	One	No	Several days old
Deardoff et al. (2008)	3.9-Mb deletion of XK, CYBB, RPGR, and exons 1–8 of OTC	Two brothers	Yes – prenatal diagnosis made in second infant	5 days old (1st child) 12 weeks old (2nd child)
Arranz et al. (2007)	0.5-Mb deletion of RPGR, OTC, and TSPAN7	One	Yes – mother with known OTC deficiency	17 days old
Segues et al. (1995)	Both families had deletions of CYBB, RPGR, and OTC	Three: two brothers and one unrelated	Yes – one family had multiple male neonatal deaths	2 days old (both brothers) Several days old
Old et al. (1985)	Xp21 deletion on karyotype, spanning NROB1 through OTC	One	No	36 h old