Table 2

Genotypes and phenotypes of this cohort

CasecDNA*ProteinVariant typeACMG criteriaACMG classificationInheritanceCountrySexAge, years†SleepMotorNDD
1ac.1191dupAp.Glu398Argfs‡31Loss of function (frameshift)PVS1, PM2, PP1PathogenicMaternalAusM6–8Fine and gross
1cMaternalAusF30–32+Fine and grossASD, ADHD
2(114 254 407–114 308 861)×3Loss of function (intragenic duplication)De novoAusM6–8+ASD, impulsivity, hyperactive, borderline IQ
3a(114 036 269–114 347 379)×1Loss of function (intragenic deletion)PaternalAusM3–5FineBorderline IQ, sensory and attention difficulties
3bDe novoAusM39–41Fine
4a‡c.982C>Tp.Arg328‡Loss of function (non-sense)PVS1, PS2, PM2, PP1PathogenicMaternalAusM18–20+FineTourette’s syndrome, mild ID, ASD
4b‡MaternalAusF18–20+FineMild ID, ASD
4cMaternalAusF15–17+FineMild ID, ASD
5‡c.1168_1169delCAp.Gln415Valfs‡7Loss of function (frameshift)PVS1, PS2, PM2PathogenicDe novoAusM6–8Mild tremorBorderline IQ
6c.1666C>Tp.Leu556PheMissensePS2, PM1, PM2, PP3, PP4PathogenicDe novoUKF12–14+Fine and gross
7a‡(114 296 590–114 310 602)×1Loss of function (intragenic deletion)De novoGerF – twin15–17Gross
7b‡De novoGerF – twin15–17Gross
8a‡c.982C>Tp.Arg328‡Loss of function (nonsense)PVS1, PS2, PM2, PP1PathogenicNAGerF36–38NA
9‡c.1607G>Cp.Arg536ProMissensePS1, PS2, PM1, PM2, PP3, PP4PathogenicPaternal (? mosaic Fa.)GerF18–20NAGrossAutistic features, mild ID
10‡c.1432C>Tp.Arg478‡Loss of function (nonsense)PVS1, PS2, PM2PathogenicDe novoGerF9–11NABroad-based gait
11a‡c.1514C>Tp.Pro505LeuMissensePS1, PS2, PM1, PM2, PP3, PP4PathogenicNAGerM39–41NANA
11b‡PaternalGerM6–8NANABorderline IQ
12ac.1385C>Gp.Ser462‡Loss of function (non-sense)PVS1, PS2, PM2, PP1PathogenicMaternalNLM3–5Fine and grossSPD
13c.1513C>Ap.Pro505ThrMissensePS1, PS2, PM1, PM2, PP3, PP4PathogenicDe novoNLM0–2Fine and gross
14c.1658 G>Ap.Arg553HisMissensePVS1, PS2, PM2PathogenicDe novoUSAM3–5+Fine and grossHyperactive, attention deficit, restricted interests and behaviour
15c.1428delp.Lys417Asnfs‡7Loss of function (frameshift)PVS1, PS2, PM2PathogenicDe novoUSAM3–5Sensory-seeking behaviours
16a(113 844 506–114 106 056)×1Loss of function (intragenic deletion)De novoUSAF42–44+Gross
16bMaternalUSAF9–11+GrossDyslexia, ASD, borderline IQ
17c.1A>Gp.M1?Translational start-site variantPM1, PM2, PM4, PP3, PP4Likely pathogenicNAUSAM0–2Fine and gross
  • *NM_014491, all deletions and the microduplication are arr[hg19]7q31.1.

  • †Ages in 2-year age ranges.

  • ‡Previously published.

  • ADHD, attention-deficit hyperactive disorder; ASD, autism spectrum disorder; Aus, Australia; DCD, developmental coordination disorder; F, female; Ger, Germany; M, male; NA, not assessed; NDD, neurodevelopmental disorder; NL, Netherlands; OCD, obsessive–compulsive disorder; SPD, sensory processing disorder; UK, United Kingdom; USA, United States of America.