Table 3 Pathogenic EGR2 variants are clinically heterogeneous, and there is no apparent association between the affected EGR2 domain and the resultant phenotype.
Domain | Variant | Phenotype | Reference |
|---|---|---|---|
NAB repressor binding site | p.Ile268Asn | CHN | Warner et al., 19984 |
Zinc-finger 1 | p.Arg353Gly | CMT | Nakamura et al., 201248 |
p.Asp355Val | CMT | Bellone et al., 19996 | |
p.Asp355Gly | CMT | Wang et al., 201649 | |
p.Arg359Gln | CMT | Mikešová et al., 20019 | |
p.Arg359Trp | DSN | Timmerman et al., 19991 | |
CHN | Boerkoel et al., 20015 | ||
DSN | Chung et al., 20053 | ||
DSN | Gargaun et al., 201636 | ||
Zinc-finger 2 | p.Arg381Cys | CMT | Yoshihara et al., 20018 |
CMT | Briani et al., 201011 | ||
CMT | Wang et al., 201649 | ||
p.Arg381Leu | CMT | Fusco et al., 201950 | |
p.Arg381His | CMT | Pareyson et al., 20007 | |
p.Asp383Tyr | DSN | Numakura et al., 20032 | |
p.Ser382Arg + p.Asp383Tyr | CHN | Warner et al., 19984 | |
p.Thr387Asn | CMT | Shiga et al., 201210 | |
Zinc-finger 3 | p.Arg409Trp | CMT | Warner et al., 19984 |
CMT | Leonardi et al., 2019 | ||
p.Arg409Gln | CMT | Sevilla et al., 201513 | |
p.Asp411Gly | DSN | This study | |
p.Glu412Gly | CMT | Safka Brožková et al., 201212 | |
CMT | Tozza et al., 201914 | ||
p.Glu412Lys | DSN | Szigeti et al., 200735 |
