Table 1.
Renal tract defects in 5 of 13 individuals with spina bifida and heterozygous variants in CELSR1
| Nucleotide change | Amino acid change | Genitourinary defects |
|---|---|---|
| c.3068C.G | p.Ala1023Gly | No renal anomaly |
| c.3372C.G | p.Ile1124Met | No renal anomaly |
| c.4085C.T | p.Thr1362Met | No renal anomaly |
| c.4228G.A | p.Gly1410Arg | No renal anomaly |
| c.4927C.T | p.Arg1643Trp | Unilateral hydronephrosis |
| c.5050_5051 ins GT | Predicted truncated protein | Bilateral hydronephrosis, severe on left |
| c.5461G.T | p.Val1821Leu | Bilateral hydronephrosis |
| c.5473G.A | p.Gly1825Ser | No renal anomaly |
| c.5719_5720 del TG | Predicted truncated protein | Undetectable left kidney, with hydronephrosis and hydroureter of the right renal tract |
| c.6184G.A | p.Gly2062Ser | Bilateral hydronephrosis |
| c.7060C.T | p.Arg2354Cys | No renal anomaly |
| c.7489C.T | p.Arg2497Cys | No renal anomaly |
| c.8632G.A | p.Gly2878Ser | No renal anomaly |
CELSR1, Cadherin EGF LAG seven-pass G-type receptor 1.