Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report

Table 1 Main clinical examination results of proband

Item	Result	Ref.
Body temperature	35 ℃	36–37 ℃
Blood pressure	35/15 mmHg	66–75/45 mmHg
Heart rate	97/min	120–140/min
Blood ammonia	461.0 μmol/L	18–72 μmol/L
Lactic acid	10.80 mmo1/L	1.06–2.09 mmo1/L
Homocysteine	29.21 μmol/L	< 15 μmol/L

Table 2 Classification of the variants in OTC according to ACMG

Gene	Variant	Inheritance	MAF			SIFT	Polyphen2	Mutation taster	Evidence	ACMG category
			ExAc	gnomAD	1000 genomes
OTC	c.970_979del	Hemi	NE	NE	NE	-	-	-	PS2 + PM2_supporting + PP3	Likely pathogenic
	TTCCCAGAGG

Transcript: NM_000531.5; MAF: Minor allele frequency; NE: Not existing.