Table 1 Summary of clinical manifestations and identified PIK3CA mutations in our patients
P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | P9 | P10 | P11 | P12 | Total | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sex | M | M | F | F | M | F | M | F | M | F | F | F | F 7/12 (58%) | 15–41% |
Agea | 3 y 10 m | 6 y 4 m | 3 y 6 m | 4 y 4 m | 11 y 7 m | 21 y | 6 y 2 m | 3 y | 10 y 2 m | 12 y 11 m | 3 y 5 m | 4 y 3 m | ||
FU duration | 3 y 5 m | 5 y 4 m | 3 y 3 m | 1 y 2 m | 9 y 4 m | 20 y 5 m | 5 y 1 m | 1 y | 0 m | 12 y 10 m | 3 y 3 m | 3 y 9 m | ||
Mutationb | + | + | + | + | + | + | + | + | + | + | + | + | ||
Specimen | Skin | Skin | PB, Skin | Skin | PB | skin | skin | Skin, Buccal | skin | skin | skin | Buccal | ||
Identified variant | c.1359_1361 delAGA (p.Glu453del) | c.263G > A (p.Arg88Gln) | c.3139C > T (p.His1047Tyr) | c.1359_1361 delAGA (p.Glu453del) | c.2740G > A (p.Gly914Arg) | c.1133G > A (p.Cys378Tyr) | c.2740G > A (p.Gly914Arg) | c.1635G > T (p.Glu545Asp) | c.2740G > A (p.Gly914Arg) | c.241G > A (p.Glu81Lys) | c.2740G > A (p.Gly914Arg) | c.3193C > T (p.His1065Tyr) | ||
VAF | 20.1 | 33.0 | 35.0 (Skin) 35.3 (PB) | 23.0 | 17.9 | 31.0 | 27.6 | 6.3 (Skin) 13.5 (Buccal) | 10.0 | 34.9 | 18.7 | 17.7 | ||
Perinatal history | ||||||||||||||
GA (weeks) | 32 + 3c | 40 + 4 | 34 + 0c | 38 + 0 | NA | 38 + 0 | 37 + 0 | 39 + 5 | 38 + 0 | 38 + 0 | 39 + 0 | 38 + 0 | Pre-2/11 (18%) | 23–33% |
Birth weight (percentile of normal) | 2.42 93 | 3.94 70 | 2.85 95 | 3.8 93 | 3.6 86 | 4.18 100d | 3.4 53 | 4.14 98 | 4.7 100 | 3.2 47 | 3.5 82 | LGAg 6/11 (55%) | 44–100% | |
Physical measurement (SD) at the last outpatient clinic visit | ||||||||||||||
Height | −1.57 | −0.21 | −2.57 | + 0.65 | NA | −0.86 | + 1.71 | −1.68 | −0.62 | −0.90 | −0.76 | −0.62 | ||
Weight | + 1.16 | + 1.69 | −1.94 | + 0.83 | + 1.63 | + 2.69 | + 0.15 | + 0.27 | + 1.20 | −0.89 | + 0.11 | |||
OFC | + 4.23 | + 2.99 | + 2.62 | + 2.62 | + 7.74 | + 5.57 | + 3.69 | + 3.03 | + 5.38 | + 3.27 | + 0.74 | + 3.16 | 11/12 (92%) | 85–100% |
Segmental overgrowth | + LLD (Lt > Rt) | + LLD (Lt > Rt) | + Generalized (Lt > Rt) | + LLD (Lt > Rt) | + d Hands/feet | + LLD (Lt > Rt) | + LLD (Lt > Rt) | + Face (Rt > Lt) LLD (Lt > Rt) | + LLD (Rt > Lt) | + LLD (Rt > Lt) | + LLD (Rt > Lt) | + LLD (Lt > Rt) | 12/12 (100%) LLD 11/12 (92%) | 69–100% 31–88% |
Brain MRI Findings | ||||||||||||||
(H)MEG | + | + | +, Lt | +, Rt | + | + | + | + | NA | + | +, Rt | + | 11/11 (100%) | 55–83% |
PMG | – | + | – | – | ± | – | – | – | – | – | – | 2/11(18%) | 17–79% | |
A-C type I | + | + | + | + | – | + | + | + | + | + | + | 10/11 (91%) | 0–90% | |
VP shunt | + | – | + | – | – | + | – | – | – | – | – | – | 3/12 (25%) | 25–52% |
DD or MR | – | ±e | + | – | + | + | + | – | – | – | – | – | 5/12 (42%) | 60–90% |
Seizure | – | + | – | – | + | – | – | – | – | – | – | – | 2/12 (18%) | 16–24% |
Cut VMs | + Face, back | + Back | – | + Face | – | + Face (philtrum) | + Face (forehead) | + Face (philtrum) | + Face, back (philtrum) | + Whole body | + Face, trunk, leg, feet | + Face (forehead) | 10/12 (83%) Midline 6/12 (50%) | 82–100% 58–86% |
Digital anomaly | S | S | – | – | – | S | – | S | P | Mf | Mf | – | S + P 5/12 (42%) | 42–67% |
Other anomaly | – | Meningo-myelocele | ASD/Bilateral SVC/Tracheal stenosis | – | – | – | Nephro-megaly | – | – | – | – | – | ||