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Table 1 Genetic, psychopathological, and neurocognitive subject characteristics of the subjects

From: EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

  Subject 1 Subject 2 Subject 3
Sex/age (years) Male/44 Female/43 Male/39
Genetic defect [EHMT1 mosaicism]  60 kb deletion exons 5–17 EHMT1 40% mosaicism in blood lymphocytes and buccal swab  200 kb deletion exons 1–5 EHMT1 80% mosaicism buccal swab  200 kb deletion exon 1 EHMT1 60% mosaicism blood lymphocytes
VABS (maximum score)
 Communication (134) 134 121 132
 Daily living skills (184) 184 176 177
 Socialization (132) 132 118 132
 Raw score (450) 450 415 441
 Mean developmental age in years > 12 > 12 > 12
ADOS module 4 (cutoff score)
 Communication (2) 4 2 2
 Social interaction (4) 7 10 9
 Total score (7) 11 12 11
 Classification Autism spectrum disorder Autism spectrum disorder Autism spectrum disorder
Mini PAS-ADD
 Major depressive disorder Past Present and past Present and past
 Anxiety disorder Present and past
 (Hypo)mania
 Obsessive compulsive disorder Present and past
 Psychosis Present and past
 Unspecified disorder
 Autism spectrum disorder
CANTAB *
 MOT mean latency 85–90% 40–45% 80–85%
 MOT error 70–75% 95–100% 40–45%
 PRM 20–25% 0–5% 70–75%
 IED error 30–35% 10–15% 10–15%
 IED completed stages 15–20% 5–10% 10–15%
 PAL 55–60% 0–5% 75–80%
  1. VABS Vineland Adaptive Behavior Scales, mini PAS-ADD Psychiatric Assessment Schedules for Adults with Developmental Disabilities, CANTAB Cambridge Neuropsychological Test Automated Battery, MOT Motor Screening Test, PRM Pattern Recognition Memory, IED Intra-Extra Dimensional, PAL Paired Associate Learning
  2. *The percentages represent the subjects’ performance compared to the normative group. For example, a subject score of 10% means that 90% of the normative group has better scores on this item