Table 2 Genetic and clinical profiles of 4 patients with genetic abnormalities detected in CELSR1. All 4 variants were not found in the general population (gnomAD).
Case | Sex/age | Gene | Transcript | DNA variants | Protein alteration | Zygosity | Classification | Clinical staging | Location of edema |
|---|---|---|---|---|---|---|---|---|---|
1 | 39/F | CELSR1 | NM_014246.3 | c.8446C>T | p.Gln2816* | Heterozygous | Likely pathogenic | 3 | Bilateral arm and leg |
CELSR1 | NM_014246.3 | c.8871_8872del | p.Cys2957* | Heterozygous | Likely pathogenic | 3 | Bilateral arm and leg | ||
2* | 67/F | CELSR1 | NM_014246.3 | c.8446C>T | p.Gln2816* | Heterozygous | Likely pathogenic | 1 | Bilateral arm and leg |
3 | 30/M | CELSR1 | NM_014246.3 | c.2017G>A | p.Val673Met | Heterozygous | VUS | 3 | Left leg |
6 | 27/F | CELSR1 | NM_014246.3 | c.5642G>A | p.Cys1881Tyr | Heterozygous | VUS | 3 | Left leg |
