Table 1.
CUL3 variants detected in participants 1–26 NM_003590.5
| Case | Label | Gender | Variant | Variant type | Classification | Inheritance |
|---|---|---|---|---|---|---|
| 1 | NEDAUS | M | c.900C>G p.(Tyr300∗) | nonsense | LP | de novo |
| 2 | NEDAUS | M | c.137delG p.(Arg46Leufs∗32) | frameshift | LP | de novo |
| 3 | NEDAUS | F | 2266C>T p.(Arg756∗) | nonsense | LP | paternal |
| 4 | NEDAUS | M | c.1636C>T p.(Arg546∗) | nonsense | LP | NA |
| 5 | NEDAUS | M | c.1336_1337del p.(Val446Phefs∗2) | frameshift | LP | de novo |
| 6 | NEDAUS | M | c.2223dup p.(Lys742∗) | nonsense | LP | NA |
| 7 | NEDAUS | F | c.1539G>A p.(Trp513∗) | nonsense | P | de novo |
| 8 | NEDAUS | M | c.179_180delAT p.(Asn60Serfs∗8) | frameshift | LP | paternal |
| 9 | NEDAUS | M | c.1007del p.(Lys336Argfs∗13) | frameshift | LP | de novo |
| 10 | NEDAUS | F | c.2246T>C p.(Ile749Thr) | missense | LP | de novo |
| 11 | NEDAUS | M | 2266C>T p.(Arg756∗) | nonsense | LP | paternal |
| 12 | NEDAUS | M | c.1020_1023dup p.(Ile342leufs∗11) | frameshift | LP | de novo |
| 13 | NEDAUS | M | c.540-2A>G p.? | splice site | LP | de novo |
| 14 | NEDAUS | M | c.1654C>T p.(Arg552∗) | nonsense | P | de novo |
| 15 | NEDAUS | F | c.1777C>T p.(Gln593∗) | nonsense | LP | de novo |
| 16 | NEDAUS | F | c.493_494del p.(Leu165Ilefs∗37) | frameshift | LP | de novo |
| 17 | NEDAUS | M | c.978del p.(Ala327Leufs∗22) | frameshift | LP | de novo |
| 18 | NEDAUS_VUS_positive | M | arr[GRCh37] 2q36.1q36.2(224877730_225811469)x1 | deletion | VUS | NA |
| 19 | NEDAUS_VUS | F | c.854T>C p.(Val285Ala) | missense | VUS | de novo |
| 20 | NEDAUS_VUS | M | C.223A>C p.(Thr75Pro) | missense | VUS | paternal |
| 21 | NEDAUS_VUS | F | c.443G>A p.(Arg148Gln) | missense | VUS | de novo |
| 22 | NEDAUS_VUS | F | c.223A>C p.(Thr75Pro) | missense | VUS | de novo |
| 23 | NEDAUS_negative | M | c.1207-3C>TC>T p.? | splice site | LP | de novo |
| 24 | NEDAUS_negative | F | c.1708-1G>A p.? | splice site | LP | de novo |
| 25 | NEDAUS_negative | F | c.1526del p.(Thr509fs) | frameshift | LP | de novo |
| 26 | NEDAUS_negative | F | c.856delC p.(His286Ilefs∗3) | frameshift | LP | de novo |
Participants 3 and 11 are related (father and daughter). F, female; LP, likely pathogenic; M, male; NA, not available; P, pathogenic; VUS, variants of uncertain significance.