Table 1. Overview of the deletions encompassing IMMP2L, identified in 7 out of 188 unrelated TS patients.
Patient | Sex | Symptom | Deletion | Deletion size (kb) | Exons deleted | Parental origin | Parental phenotype | Additional deletions/duplications (CNVs) |
---|---|---|---|---|---|---|---|---|
P1 TS101 6972466 | M | TS ADHD | chr7.hg19:g.110.959.798 _111.290.945delinsCATACTACAGGACTTACAAACTTACAA | 331 | 1a, 1b, 2, 3, 3a, 3b | Pat | Pat: dyslexia, temper. Mat: unaffected | |
P2 TS71 6962812 | M | TS ADHD | chr7.hg19:g.111.051.907 _111.199.868del | 148 | 2, 3 | Mat | Pat: ADHD symptoms Mat: tics, OCB | |
P3 TS131 6982155 | M | TS ADHD Asperger | chr7.hg19:g.(?_110.892.600) _(111.055.300_?)del | ∼163 | 3a, 3b | Mat | Pat: unaffected Mat: unaffected | chr1.hg19:g.(?_231711404)_(231814354_?) dup 102 kb paternal duplication which includes DISC1 partially |
P4 TS133 6982192 | M | TS OCD | chr7.hg19:g.110.889.476 _111.080.538delinsACACCTACTGCTCA | 191 | 3a, 3b | Pat | Pat: OCB, stuttering Mat: unaffected | chr4.hg19:g.(?_188104036)_(189795272_?) dup 1.7 Mb paternal duplication which includes ZFP42, TRIML1, TRIML2, LOC339975, LOC401164 |
P5 TS32 6952838 | M | TS | chr7.hg19:g.111.029.575 _111.079.376del | 49 | 3a, 3b | NA | Pat: unaffected Mat: unaffected | chr15.hg19:g.(?_32019187)_(32439298_?) dup 420 kb duplication which includes OTUD7A and CHRNA7 partially |
P6 TS36 8942118 | M | TS ADHD OCD | chr7.hg19:g.110.904.173 _111.113.977delinsCA | 210 | 3a, 3b | Pat | Pat: stubbornness Mat: unaffected | |
P7 TS126 8932009 | M | TS ADHD | chr7.hg19:g.(?_111.054.100) _(111.197.400_?)del | ∼143 | 2, 3 | Pat | Pat: unaffected Mat: unaffected |
Abbreviations: del, deletion; dup, duplication; M, male; mat, mater/mother; NA, not analyzed as parental DNA was not available; pat, pater/father.
Patient identities (P1–P7) are followed by family numbers and encrypted patient identification codes.