Table 1.
Pathogenic EBF3 variants associated with the renal tract and/or smiling, as reported in this study and in the published literature
| EBF3 coding variant | EBF3 protein variant | Renal tract anomaly | Facial features relevant to smiling | Reference |
|---|---|---|---|---|
| c.280_283del | p.(Glu94Lysfs∗37) | Neurogenic bladder, VUR, recurrent UTIs | Not recorded | Sleven et al.S1 |
| c.469_477dup | p.(His157_Ile159dup) | Recurrent UTIs | Not recorded | Harms et al.9 |
| c.471C>A | p.(His157Gln) | Neurogenic bladder, VUR | Not recorded | Tanaka et al.8 |
| c.487C>T | p.(Arg163Trp) | Atonic bladder, urethral stricture, bilateral VUR and hydronephrosis, recurrent UTIs | Downturned corners of the mouth | Blackburn et al.S9 |
| c.488G>A | p.(Arg163Gln) | Impaired bladder control | Triangular-shaped facies | Chao et al.S10 |
| c.488G>T | p.(Arg163Leu) | Incomplete bladder emptying, VUR | Triangular-shaped facies | Chao et al.S10 |
| c.512G>A | p.(Gly171Asp) | Neurogenic bladder, bilateral VUR | Facial asymmetry | Harms et al.9 |
| c.554+1G>T | - | VUR, recurrent UTIs, renal dysplasia | Normal | Sleven et al.S1 |
| c.579G>T | p.(Lys193Asn) | VUR | Downturned corners of the mouth, minimal facial expression | Sleven et al.S1 |
| c.616C>T | p.(Arg206∗) | Hydronephrosis, recurrent UTIs | Not recorded | Tanaka et al.8 |
| c.626G>A | p.(Arg209Gln) | Normal | Lack of social smile | Tanaka et al.8 |
| c.626G>A | p.(Arg209Gln) | Neurogenic bladder with bilateral VUR and hydronephrosis, recurrent UTIs | Abnormal horizontal smile | Proband in the current study |
| c.1402_1414del13 | p.(Thr464Profs∗10) | Recurrent UTIs | Not recorded | Tanaka et al.8 |
UTI, urinary tract infection; VUR, vesicoureteric reflux.
Each row represents a single nonrelated case. The renal tract features are as described in the original publications. In addition, facial features relevant to smiling are indicated.