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. 2014 Feb 19;22(11):1283–1289. doi: 10.1038/ejhg.2014.24

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.