Supplementary Material for: A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

We identified a male patient presenting with intellectual disability and agenesis of the corpus callosum, carrying an apparently balanced, reciprocal, de novo translocation t(6;14)(q25.3;q13.2). Breakpoint mapping, using array painting, identified 2 interesting candidate genes, <i>ARID1B</i> and <i>MRPP3</i>, disrupted in the patient. Unexpectedly, the rearrangement produced 3 in-frame reciprocal fusion transcripts that were further characterized. Formation of fusion transcripts is mainly reported in acquired malignancies and is very rarely observed in patients with intellectual disability (ID) and/or multiple congenital malformations (MCA). Additional experimental results suggest that <i>ARID1B</i>, a gene involved in chromatin remodeling, constitutes a good candidate for the central nervous system phenotype present in the patient.

我们鉴定出一例表现为智力障碍（intellectual disability）与胼胝体发育不全（agenesis of the corpus callosum）的男性患者，其携带一处表观平衡的相互性新发易位t(6;14)(q25.3;q13.2)。采用阵列绘画（array painting）技术进行断点定位后，发现ARID1B与MRPP3这两个颇具研究价值的候选基因在该患者体内受到该易位的干扰而发生断裂。出乎意料的是，此次染色体重排产生了3种框内相互融合转录本，研究人员对其开展了进一步的表征分析。融合转录本的形成主要见于获得性恶性肿瘤，在智力障碍（ID）和/或多发先天性畸形（MCA）患者中极为罕见。额外的实验结果表明，参与染色质重塑的ARID1B是该患者中枢神经系统表型的极具潜力的候选致病基因。