Table 1 of
Trang, Mol Vis 2022; 28:480-491. Table 1 of
Trang, Mol Vis 2022; 28:480-491.
Table 1. Genetic findings in patients diagnosed with FEVR.
| Patient ID | Gene | cDNA change | Amino acid change | Zygosity | Effect | Reference | Heredity | Clinical significance |
|---|---|---|---|---|---|---|---|---|
| EVR-05 | FZD4 | c.1282_1285del | p.(D428Sfs*1) | Het | Frameshift | rs80358295 | De novo | Pathogenic a b |
| EVR-14 | FZD4 | c.313A>G | p.(M105V) | Het | Missense | rs80358284 | Paternal | Pathogenic a b |
| EVR-18 | FZD4 | c.169G>C | p.(G57R) | Het | Missense | Novel | De novo | Likely pathogenic c |
| EVR-10 | NDP | c.112C>T | p.(R38C) | Hemi | Missense | rs758550101 | Maternal | Pathogenic a b |
| EVR-15 | NDP | c.131A>G | p.(Y44C) | Hemi | Missense | rs104894870 | Maternal | Pathogenic c |
| EVR-19 | NDP | c.175-3A>G | Splicing | Hemi | Splicing | Novel | Maternal | Likely pathogenic c |
| EVR-20 | NDP | Exon 2 deletion | Hemi | Large deletion | reported | Maternal | Pathogenic | |
| EVR-07 | KIF11 | c.2146C>T | p.(Q716*) | Het | Nonsense | Novel | De novo | Likely pathogenic c |
| EVR-08 | KIF11 | c.388-1G>C | Splicing | Het | Splicing | rs1844462368 | Maternal | Likely pathogenic b |
| EVR-11 | KIF11 | c.2511_2515del | p.(N838Kfs*17) | Het | Frameshift | Novel | De novo | Likely pathogenic c |
| EVR-06 | ATOH7 | c.145G>T | p.(E49*) | Hom | Nonsense | rs560230254 | Paternal & Maternal | Likely pathogenic c |
| EVR-16 | ATOH7 | c.145G>T | p.(E49*) | Hom | Nonsense | rs560230254 | Unknown | Likely pathogenic c |