Table 5 Potential oligogenic inheritance in seven KFS patients
From: The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
Patient | Gene symbol | Variant type | Variant nomenclature |
|---|---|---|---|
CS63 | BAZ1B | In-frame insertion | c.3804_3821dupGGAGGAGGAGGAAGAAGA (p.Glu1268_Glu1273dup) |
GRIP1 | Splice acceptor | c.1043-1G > A | |
SUFU | Missense | c.1105G > A (p.Val369Ile) | |
TBX6 | Missense | c.499C > T (p.Arg167Cys) | |
CS132 | MYO18B | Splice region | c.2695 + 3A > G |
SUFU | Splice region | c.1157 + 6C > T | |
WNT7A | Missense | c.83C > T (p.Ser28Leu) | |
CS587 | FUZ | Missense | c.819C > A (p.Asp273Glu) |
MAP3K7 | Missense | c.1115G > A (p.Arg372His) | |
POR | Missense | c.1798C > T (p.Arg600Trp) | |
CS676 | CHD7 | Synonymous | c.4008C > T (p.Ile1336=) |
FRAS1 | Missense | c.7423G > A (p.Glu2475Lys) | |
CS519 | BAZ1B | Missense | c.1364G > A (p.Arg455Gln) |
COG1 | Missense | c.739C > T (p.His247Tyr) | |
CS1015 | ANKRD11 | Missense | c.6067G > T (p.Ala2023Ser) |
HOXD13 | Missense | c.814G > A (p.Val272Ile) | |
MYO18B | Missense | c.662 T > C (p.Leu221Pro) | |
CS1049 | FREM2 | Missense | c.8479C > T (p.Arg2827Cys) |
MYO18B | Missense | c.5020G > A (p.Gly1674Arg) |