Table 2.
Reported cases of gene fusion as a result of a CCR
| Major patient phenotypes | Karyotype | Fusion transcripts: 5’ gene, exons; 3’ gene, exons | 5’ gene breakpoint | 3’ gene breakpoint | Truncated gene products | Additional SV, SNVs, or transcription changes | Fusion mechanism | Parental origin | Reference |
|---|---|---|---|---|---|---|---|---|---|
| DD, ataxia, brain atrophy | t(1;19)(q21.3;q13.2)dn | PAFAH1B3, exons 1–5; CLK2, exons 1–12 | in intron 4 (PAFAH1B3) | 5’ of exon 1 (CLK2) | PAFAH13B exons 1–5 | ? | AluSP repeats | ? | Nothwang et al., 2001 |
| DD, delay in expressive language, macrocephaly, kyphoscoliosis | t(7;10)(q33;q23)dn | SEC8L1, exons 1–11; PTEN, exons 3–9 | in intron 11 (SEC8L) | in intron 2 (PTEN) | none | 7-Mb deletion in 7q33q34 (PTEN, TPK1) | ? | Paternal germline | Yue et al., 2005 |
| Hypospadias, anal atresia, rectourethral fistula, hypoplastic kidney | t(6;17)(p21.31;q11.2) | 182-FIP, exon 1; LHFP5, exon 4 | in intron 1 (FIP1) | in intron 3 (LHFP5) | ? | increased transcription of SRPK1 and TAOK1 | 2-bp deletion and a 7-bp duplication | ? | Mansouri et al., 2006 |
| Left renal agenesis, neutropenia, recurrent pulmonary infections, long bone diaphysis broadening, growth and DD | t(2;7)(p13;p12)dn | EXOC6B, exon 1; TNS3, exon 16 and TNS3, exon 15; EXOC6B, exon 2 | in intron 1 (EXOC6B) | in intron 15 (TNS3) | none | none; haploinsufficiency for both TNS3 and EXOC6B | NHEJ? | ? | Borsani et al., 2008 |
| DD + agenesis of the corpus callosum | t(6;14)(q25.3;q13.2)dn | ARID1B, exons 1–5; MRPP3, exons 5–8; MRPP3, exons 1–4; MRPP3, exons 6–19 | in intron 5 (ARID1B) | in intron 4 (MRPP3) | none | none; haploinsufficiency for both ARID1B and MRPP3 | 1. NHEJ? 2. non-templated insert | ? | Backx et al., 2011 |
| Schizophrenia | t(1;11)(q42.1;q14.3)dn | DISC1, exons 1–8; DISC1FP1, exons 4–7b; DISC1, exons 1–8; DISC1FP1, exons 3a–7b; DISC1, exons 1b–2; DISCFP1, exons 9–13 | in exons 8 and 2 (DISC1) | in exons 4, 3a, and 9 (DISC1FP1) | none | haploinsufficiency for DISC1 | NHEJ? | ? | Eykelenboom et al., 2012 |
| Psycho motor retardation, speech delay, facial dysmorphisms, preaxial polydactyly of the thumbs | t(1;12;7)(p21;q14;p21)dn | DPYD, exons 1–3; ETV1, exons 10–14; FOXP1, exons 1–11; unknown, exons 1–2 | in intron 3 (DPYD) | in intron 9 (ETV1) | FOXP1, exons 1–11; DPYD, exons 1–3 | decreased expression of FOXP1 and DPYD | NHEJ? | ? | Kloosterman et al., 2012; van Heesch et al., 2014 |
| Psycho motor retardation, cerebellar hypoplasia | t(X;8)(q25;q24)dn | PTK2, exon 1; THOC, exons 2–36 | in 5’ UTR (PTK2) | in intron 1 (THOC) | none | ? | MER4/AluJ on 8q24 and SVA on Xq25 | ? | Di Gregorio et al., 2013 |
| DD, speech impairment, dysmorphisms | t(5;6)(q12.3;q25.3)dn | no fusion transcripts expressed | in intron 10 (ADAMTS6) | in intron 2 (ARID1B) | none | haploinsufficiency for ARID1B and ADAMST6 | NHEJ? | ? | Malli et al., 2014 |
| GTS, OCD, ADHD + comorbidities | t(3;9)(q25.1;q34.3)mat | OLFM1, exon 7; TCONS_12_00019929; OLFM1, exon 7; TCONS_12_00019930 | in exon 7 (OLFM1) | in TCONS_12_00019929/30 | OLFM1, exons 1–7 | haploinsufficiency for OLFM1 | NHEJ? | maternally inherited | Bertelsen et al., 2015 |
ADHD = Attention deficit hyperactivity disorder; DD = developmental delay; GTS = Gilles de la Tourette syndrome; OCD = obsessive-compulsive disorder; ? = not known.