Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature
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- 作者：Isabel A. Hemming ; Alistair R. R. Forrest ; Peter Shipman ; Karen J. Woodward ; Peter Walsh ; David G. Ravine and Julian Ik-Tsen Heng
- 关键词：brain disorder ; ZNF238 ; AKT3 ; FAM36A/COX20 ; HNRNPU
- 刊名：American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：171
- 期：3
- 页码：458-467
- 全文大小：1555K
- ISSN：1552-485X
文摘
Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with an adjacent duplication, associated with severe seizures, microcephaly, agenesis of the corpus callosum, and pachygyria, a consequence of defective neuronal migration disorder. We conducted a literature survey to find that our patient is only the second case of such a 1q43-q44 CNV ever to be described. Our data support an association between 1q43-q44 deletions and microcephaly, as well as an association between 1q43-q44 duplications and macrocephaly. We compare and contrast our findings with previous studies reporting on critical 1q43-q44 regions and their constituent genes associated with seizures, microcephaly, and corpus callosum abnormalities [Ballif et al., 2012; Hum Genet 131:145–156; Nagamani et al., 2012; Eur J Hum Genet 20:176–179]. Taken together, our study reinforces the association between 1q43-q44 CNVs and brain disorder.