Table 1 Demographic, clinical and molecular measures
Case | Gender | Age (years) | CGG repeat size | FMR1 mRNA | Region | Start | End | Size | Inheritance | Controls n = 8,328 (50% reciprocal) | Gene(s) | Groupa | Other clinical information |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 12 | 64 | 2.19 (0.3) | Del 11q13.3 | 70,077,400 | 70,614,279 | 536 Kb | Unknown | 0 | SHANK2 | 1 | Significant cognitive deficits, anxiety, tactile sensitivity, hyperactivity and perseveration |
2 | M | 15 | 58 | 1.57 (0.06) | Del 6q26 | 162,565,963 | 162,748,669 | 182 Kb | Familial/ maternal | 0 | PARK2 | 1 | Anxiety, hyperactivity, ID, tactile defensiveness, perseveration and aggression |
3 | M | 5 | 81 | 2.41 (0.16) | Del 2q21.3 | 135,591,912 | 135,966,218 | 374 Kb | Familial/paternal | 0 | RAB3GAP1, ZRANB3 | 3 | Severe autism, ADHD, obsessive behavior and EEG with generalized polyspikes during sleep |
Dup Xp22.31 | 6,442,757 | 8,115,638 | 1.67Â Mb | Unknown | 0 | VCX3A, HDHD1, STS, VCX, PNPLA4, MIR651, VCX2 | |||||||
4 | M | 9 | 66 | 1.95 (0.23) | Dup Xp22.31 | 6,404,592 | 6,907,093 | 502 Kb | Unknown | 0 | VCX3A | 2 | Anxiety, learning problems, trichotillomania, phobias and psychosis |
5 | F | 69 | 20, 80 | 2.11 (0.2) | Dup 10q26.3 | 134,492,316 | 134,941,539 | 449 Kb | Not inherited to daughter | 0 | C10orf93, GPR123, KNDC1, UTF1, VENTX, MIR202, ADAM8 | 4 | Severe autonomic dysfunction, tremor, ataxia and memory problems |
6 | F | 35 | 29, 106 | 3.32 (0.44) | Dup 10q26.3 | 134,543,728 | 134,955,025 | 411 Kb | Not inherited to son | 0 | C10orf93, GPR123, KNDC1, UTF1, VENTX, MIR202, ADAM8, TUBGCP2 | 4 | Severe autonomic dysfunction, ataxia, tremor, orthostatic hypertension and migraines |
7 | M | 14 | 192 | 5.02 (0.49) | Dup 6p22.3 | 17,977,030 | 18,137,572 | 160 Kb | Unknown | 0 | KIF13A | 1 | Significant sensory integration issues, suicidal threats, hearing voices and frequent tantrums |
8 | M | 7 | 99 | 2.98 (0.22) | Dup 10q26.2 | 128,750,641 | 129,507,857 | 757 Kb | Unknown | 0 | DOCK1, FAM196A, NPS, FOXI2 | 4 | OCD and severe autonomic function |
9 | M | 6 | 80 | 2.14 (0.1) | Dup 13q12.12 | 24,060,479 | 24,236,403 | 175 Kb | Familial/ maternal | 0 | LOC374491, ATP12A, RNF17 | 2 | Severe behavior problems and tantrums |
10 | M | 6 | 56 | 1.77 (0.1) | Del 21q21.2 | 23,370,733 | 23,780,822 | 410 Kb | Unknown | 0 | None | 2 | Anxiety, obsessive compulsive, tactile aversion and hyperarousal |
11 | F | 31 | 29, 102 | 2.91 (0.03) | Dup 3q27.1 | 184,311,092 | 184,784,473 | 473 Kb | Unknown | 0 | LAMP3, MCF2L2, B3GNT5, KLHL6 | 4 | Depression |