Table 1 Summary of the clinical and molecular findings of studied subjects
Patient nos. | Gender | Age | Syndactyly | Skin findings | Affected digits | Gene | Variant | VAF (%) |
|---|---|---|---|---|---|---|---|---|
1 | M | 11 | N | CCTN | R-Hand: 2,3 | AKT1 | c.49G > A (p.Glu17Lys) | 22.03 |
2 | M | 11 | N | CCTN | L-Foot: 1,2,3,4,5 | AKT1 | c.49G > A (p.Glu17Lys) | 11.16 |
3 | M | 2 | N | CCTN | R-Hand: 2,3 | AKT1 | c.49G > A (p.Glu17Lys) | 9.93 |
4 | F | 10 | N | CCTN | L-Hand: 3,4,5 | AKT1 | c.49G > A (p.Glu17Lys) | 20.57 |
5 | F | 6 | N | N | L-Foot: 2,3; R-Foot:1.2; R-Hand:2,3 | PIK3CA | c.1357G > A (p.Glu453Lys) | 11.10 |
6 | M | 3 | N | N | R-Foot: 2 | PIK3CA | c.1624G > A (p.Glu542Lys) | 24.48 |
7 | M | 4 | Y | N | L-Foot: 2,3 | PIK3CA | c.1624G > A (p.Glu542Lys) | 17.15 |
8 | M | 5 | Y | N | L-Foot: 1,2,3,4 | PIK3CA | c.1624G > A (p.Glu542Lys) | 20.95 |
9 | M | 4 | N | N | L-Foot: 2,3 | PIK3CA | c.1624G > A (p.Glu542Lys) | 17.10 |
10 | F | 4 | N | N | R-Foot: 2,3 | PIK3CA | c.1624G > A (p.Glu542Lys) | 27.58 |
11 | M | 3 | N | N | R-Foot: 1,2 | PIK3CA | c.1624G > A (p.Glu542Lys) | 17.79 |
12 | M | 2 | N | N | L-Foot: 1,2,3 | PIK3CA | c.1633G > A (p.Glu545Lys) | 19.11 |
13 | M | 2 | Y | N | R-Foot: 2,3 | PIK3CA | c.1633G > A (p.Glu545Lys) | 27.31 |
14 | M | 11 | N | N | L-Foot: 1,2,3; R-Foot:1,2,3,4 | PIK3CA | c.1636C > A (p.Gln546Lys) | 24.50 |
15 | F | 13 | N | N | B-Feet: 2 | PIK3CA | c.3139C > T (p.His1047Tyr) | 18.94 |
16 | M | 1 | N | N | R-Hand: 2,3 | PIK3CA | c.3140A > G (p.His1047Arg) | 25.63 |
17 | M | 2 | Y | N | R-Foot: 1,2 | PIK3CA | c.3140A > G (p.His1047Arg) | 23.29 |
18 | F | 5 | Y | N | L-Foot: 2,3 | PIK3CA | c.3140A > G (p.His1047Arg) | 21.45 |
19 | M | 2 | N | N | R-Hand: 1,2 | PIK3CA | c.3140A > G (p.His1047Arg | 25.57 |
20 | F | 10 | N | N | R-Hand: 1,2,3,4,5 | PIK3CA | c.3140A > G (p.His1047Arg) | 10.36 |
21 | M | 2 | N | N | L-Foot: 2,3 | PIK3CA | c.3140A > G (p.His1047Arg) | 20.03 |
22 | F | 6 | N | N | L-Hand: 5; R-Hand:1,2,3 | PIK3CA | c.3140A > G (p.His1047Arg) | 15.82 |
23 | F | 3 | N | N | R-Hand: 5 | PIK3CA | c.3140A > T (p.His1047Leu) | 33.38 |
24 | M | 34 | N | N | R-Hand: 1,2 | PIK3CA | c.3140A > T (p.His1047Leu) | 18.99 |