Table 3 Detailed results of the DNA sequencing of the JAG1 gene
From: Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene
Patient no | HGVS coding | HGVS protein | Exon | Domain | Coding impact | ACGM classification | Reference | Associated clinical features |
|---|---|---|---|---|---|---|---|---|
P1 | c.570C > A | p.Y190* | 4 | DSL | Nonsense | Pathogenic | Novel | Bilateral peripheral pulmonary artery stenosis Patent ductus arteriosus Hiatus hernia |
P2 | c.756-1G > A | Intronic | Intron of ex.6 | Noncoding | Splicing | Pathogenic | Novel and de novo | Bilateral peripheral pulmonary artery stenosis |
P3 | c.928G > T | p.G310* | 7 | EGF-like repeats 3 | Nonsense | Pathogenic | Novel | Unilateral peripheral pulmonary artery stenosis Butterfly vertebrae Thalassemia intermedia |
P4 | c.2157_2158insC | p.(C720Lfs Ter 3) | 17 | EGF-like repeats 13 | FS insertion and termination after 3 amino acids | Pathogenic | Novel and de novo | Unilateral peripheral pulmonary artery stenosis Ventricular septal defect Butterfly vertebrae Pelvi-ureteric junction obstruction |
P5 | c.2280_2281delGG p. (V761Qfs*24) | p. (V761Qfs*24) | 18 | EGF-like repeats 14 | FS and termination of the protein after 25 amino acids | Pathogenic | Novel | Patent foramen ovale Left ventricular hypertrophy Butterfly vertebrae Posterior embryotoxon |