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. 2015 Aug 15;6(3):110–134. doi: 10.1159/000438812

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.