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Table 2 Genetic data, clinical features, and MRI findings of patients in this study

From: A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

  Patient1 Patient2 Patient3 Patient4 Patient5 Patient6 Patient7 Patient8 Patient9 Patient10 Patient11 Patien12 Patient13
Age 3y0m 2y3m 6y8 m 4y2m 4y9m 4y6m 16y 4y8 m 7y4m 9y 2y10m 3y6m 2y0m
Sex F M M F F F M M M M M M M
Elevated p-S6 protein (Relative density) + (3.4) + (3.0) + (3.8) + (3.6) ND + (2.1) + (2.1) + (2.8) + (2.6) - (0.8) - (0.9) - (1.1) - (1.0)
Gene AKT3 PIK3R2 PIK3R2 PTEN PTEN PTEN - - - - - - -
Mutation c.686A > G p.(N229S) c.1117G > A p.(G373R) c.1117G > A p.(G373R) c.640C > T p.(Q214*) c.740 T > C p.(L247S) c.1006C > G p.(Y336*) Unknown Unknown Unknown Unknown Unknown Unknown Unknown
Inheritance de novo de novo de novo Mother negative de novo de novo - - - - - - -
Clinical features
 Gestational age 36w5d 36w6d 40w1d 37w4d 38w6d 39w5d 36w6d 36w5d 41w0d 38w1d 39w 38w6d 38w3d
 Birth weight g (SD)a 2942 (+1.4) 3450 (+2.7) 3532 (+1.2) 2536 (−0.3) 2854 (+0) 3200 (+0.7) 2915 (+1.0) 3490 (+3.0) 2464 (−2.3) 3885 (+3.3) 3830 (+2.6) 4120 (+3.5) 3866 (+3.0)
 Birth length cm (SD)a 47.5 (+0.3) 49.2 (+1.0) 52.5 (+1.4) 47 (−0.4) 50 (+0.7) 51 (+1.0) 48 (+0.4) 48.8 (+0.9) 47 (−1.6) 50.6 (+1.3) NA NA 48.4 (+0)
 Birth OFC cm (SD)a 39 (+4.9) 36 (+2.5) 34 (+0.4) 33 (+0.1) 33 (−0.1) 34 (+0.5) 35 (+1.8) 37 (+3.3) 30 (−2.0) 41 (+6.4) 36.5 (+3.0) 37 (+3.0) 39 (+4.6)
 Birth OFC percentile a >99 >99 67 53 44 70 96 >99 2 >99 >99 >99 >99
 Last weight SDb −1.9 0 −2.3 +0.4 −0.7 +0.8 −2.6 −0.2 −1.2 −0.2 +2.8 +2.2 +1.4
 Last length SDb −2.0 −0.2 −2.8 −0.4 −1.9 +0.2 −3.3 −1.3 −2.7 1.1 +0.7 −1.8 +0.2
 Last OFC SDc +6.3 +4.6 +3.0 +4.5 +4.3 +3.5 +4.9 +4.6 +2.0 +8.5 +5.4 +3.8 +4.5
 Last OFC percentile c >99 >99 >99 >99 >99 >99 >99 >99 98 >99 >99 >99 >99
 Overgrowth /Asymmetry - + - - - - - - - + - + -
 Vascular malformations - - - - - - - - - + - - +
 Syndactyly - - - - - - - - - - - - -
 Polydactyly - - - - - - + - - + - + -
 Connective tissue dysplasia - + - - - - - - + - - - -
 Dysmorphic features + + + + + + + + + + + + +
 DQ (assessed method) age DD DQ 42 (Denver) 10 m DD DQ 76 (KIDS) 2y5m DQ 85 (KIDS) 4y6m DQ 59 (K-test) 4y1m DQ 12 (KIDS) 6y6m DQ 71 (K-test) 6y8 m DQ 35 (KIDS) 5y9m DD DQ 72 (K-test) 3y0m DQ 46 (K-test) 1y7m NA
 Meaningful words - - - 1y6m 8 m 2y6m + 2y - + 2y - -
 Walking alone - - - 2y4m 2y2m 1y6m + 1y11m 1y11m 4y6m 1y6m 2y3m 1y3m
 Hypotonia + + + - + - + + + - - + +
 Seizure + - + - - - + - - - - - -
MRI findings
 Ventriculomegaly + + + - - - + + - + + + +
 Polymicrogyria + + + - - - + - - + - + -
 Cerebellar tonsillar ectopia - - - - - - - + - + - + -
 White matter abnormalities + + + - - - - - - + - + -
  1. aSD and percentile were determined on the basis of the national data reported by the Ministry of Health, Welfare, and Labor in Japan in 2010
  2. bSD was determined on the basis of the national data reported by the Ministry of Health, Welfare, and Labor in Japan in 2000
  3. cSD and percentile were determined on the basis of CDC growth Charts for the United States in 2000
  4. DD apparently developmentally delayed but not scored by a standardized method, Denver Denver Developmental Screening Test, DQ developmental quotient, F female, KIDS Kinder Infant Development Scale, K-test the revised version of Kyoto Scale of Psychological Development, M male, NA not available, OFC occipitofrontal circumference, p-S6 phosphorylated S6 protein, SD, standard deviation
  5. Accession number.: AKT3, NM_005465.4; PIK3R2, NM_005027.3; PTEN, NM_000314.5