Table 2.
Molecular Data of Individuals with Heterozygous DLL1 Pathogenic Variants (GenBank: NM_005618.3; ENST00000366756.3)
| Individual | Sequence Variant (c.DNA) | Amino Acid Change | DLL1 Deletion | Inheritance |
|---|---|---|---|---|
| 1 | c.1492G>T | p.Glu498∗ | – | de novo |
| 2 | c.231C>A | p.Cys77∗ | – | affected mother |
| 3 | c.231C>A | p.Cys77∗ | – | affected mother |
| 4 | c.231C>A | p.Cys77∗ | – | affected mother |
| 5 | c.231C>A | p.Cys77∗ | – | unknown |
| 6 | c.1525C>T | p.Arg509∗ | – | affected father |
| 7 | c.2013_2014del | p.Glu673Glyfs∗15 | – | unknown |
| 8 | c.50_51del | p.Cys17Serfs∗108 | – | unknown |
| 9 | c.2013_2014del | p.Glu673Glyfs∗15 | – | de novo |
| 10 | c.1401_1405dup | p.Cys469Serfs∗70 | – | de novo |
| 11 | c.543_570dup | p.Phe191Thrfs∗50 | – | not maternal |
| 12 | c.54+1G>A | p.Gln18_Val19insIleGlyGlyGln | – | de novo |
| 13 | c.54_54+1insTAGTCG | p.Val19∗ | – | de novo |
| 14 | c.536G>T | p.Cys179Phe | – | de novo |
| 15 | – | – | arr[GRCh37]6q27 (170591663-170713885)x1; 122 kb deletion of DLL1 and FAM120B | de novo |