Table 3.

Genetic traits of children with Alagille syndrome

Patient	Gene	Exon	Genetic mutation information	mutation type	Homozygous/Heterozygous	Family results	ACMG Pathogenicity analysis
1	NOTCH2	exon24	c.3928C > T p.Q1310X	nonsense	heterozygous	mother	Likely pathogenic
2	JAG1	exon23	c.2698C > T p.R900X	nonsense	heterozygous	spontaneous variant	pathogenic
3	JAG1	exon12	c.1464delC p.I488Mfs*10	frameshift	heterozygous	spontaneous variant	pathogenic
4	JAG1	exon25	c.3094_3095delAC p.T1032*fs*1	frameshift	heterozygous	spontaneous variant	pathogenic
5	JAG1	exon14	c.1853delA p.N618Tfs*125	frameshift	heterozygous	Spontaneous variant	pathogenic
6	JAG1	exon6	c.2080A > T p.K694X	nonsense	heterozygous	Spontaneous variant	pathogenic
7	JAG1	exon11	c.1395 + 3A > G splicing	splicing	heterozygous	mother	Likely pathogenic
8	JAG1	exon23	c.2698C > T p.R900X	nonsense	heterozygous	spontaneous variant	pathogenic
9	JAG1	exon12	c.1437 T > A p.Y479X	nonsense	heterozygous	Spontaneous variant	pahogenic
10	JAG1	exon7	c.960 T > G p.Y320X	nonsense	heterozygous	Spontaneous variant	Pathogenic

abbreviations’ footnote: m months, ALT Alanine transaminase, AST Aspartate transaminase, GGT Gamma-glutamyltranspeptidase, TBil Serum total bilirubin, DB Direct bilirubin, TBA Total bile acid, TC Total cholesterol, N No liver biopsy was perform