The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients

Table 2

Molecular profiles of 9 neonatal-onset UCD patients.

Patient number	Molecular diagnostic technology	Family member tests	Gene	Nucleotide aberration	Amino acid change	Molecular diagnosis	Inheritance pattern	Zygosity	Parent of origin
P1	TES panel	Trio+1 brother	OTC (NM_000531.6)	c.119G>A	p.R40H	Ornithine transcarbamylase deficiency (MIM:311250)	XR	Hemi	Inherited/mother
P2	TES panel	Trio	OTC (NM_000531.6)	c.540G>C	p.Q180H	Ornithine transcarbamylase deficiency (MIM:311250)	XR	Hemi	Inherited/mother
P3	TES panel	Trio	OTC (NM_000531.6)	c.176T>C	p.L59P	Ornithine transcarbamylase deficiency (MIM:311250)	XR	Hemi	Inherited/mother
P4	WES	Trio	OTC (NM_000531.6)	c.803T>C	p.M268T	Ornithine transcarbamylase deficiency (MIM:311250)	XR	Hemi	Inherited/mother
P5	WES	Trio+1 sib	OTC (NM_000531.5)	c.626C>T	p.A209V	Ornithine transcarbamylase deficiency (MIM:311250)	XR	Hemi	Inherited/mother
P6	WES	Trio+1 sib	OTC (NM_000531.5)	c.626C>T	p.A209V	Ornithine transcarbamylase deficiency (MIM:311250)	XR	Hemi	Inherited/mother
P7	WES	Trio	CPS1 (NM_001875.4)	c.2162G>A; c.2938G>A	p.R721Q; p.G980S	Carbamoylphosphate synthetase I deficiency (MIM:237300)	AR	Het	Inherited/father+mother
P8	WES	Trio	CPS1 (NM_001875.5)	c.3784C>T; c.3734T>A	p.R1262; p.L1245H	Carbamoylphosphate synthetase I deficiency (MIM:237300)	AR	Het	Inherited/father+mother
P9	TES panel	Trio	OTC (NM_000531.5)	c.583G>A	p.G195R	Ornithine transcarbamylase deficiency (MIM:311250)	XR	Hemi	Inherited/mother

AR: autosomal recessive inheritance disease; XR: X-linked recessive inheritance disease; Het: heterozygous; Hemi: hemizygous; hom: homozygous; TES: targeted exome sequencing; WES: whole-exome sequencing. Italicized variants were unreported previously.