Table 2.
Mutations reported to date in WNT10B gene
| Publication | WNT10B variants |
|---|---|
| Ugur and Tolun, 2008 | Homozygous c.994C>T, p.(Arg332Trp) |
| Aziz et al., 2014 | Homozygous c.1165_1168delAAGT |
| Homozygous c.300_306dupAGGGCGG, p.(Leu103Argfs*53) | |
| Khan et al., 2012 | Homozygous c.986C>G, p.(Thr329Arg) |
| Blattner et al., 2010 | Homozygous c.458_461dupAGCA, p.(Asp155Alafs*47) |
| Kantaputra et al., 2018 | Homozygous c.695_697delACA, p.(Asn232del) |
| Monies et al., 2017 | Homozygous c.338-1G>C |
| Meng et al., 2017 | Presumably compound heterozygous c.[661C>T; ?;986C>A], p.(Arg221Trp);?;(Thr329Lys) |
| Ullah et al., 2018 | Homozygous c.460C>G, p.(Gln154*) |
| Brunelle et al., 2019 | Homozygous c.817delG |
| Compound heterozygous c.[746G>T]; [817dupG] | |
| Homozygous c.949T>A, p.(Phe317Ile) | |
| Bilal et al., 2020 | Homozygous c.338G>A, p.Gly113Asp* |
| Homozygous c.884-896delTCCAGCCCCGTCT, p.(Phe295Cysfs*87) |