Table 3 Genetic traits of children with Alagille syndrome
From: Clinical and genetic analysis in Chinese 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 |