Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium.
Leuven Autism Research (LAuRes), Leuven, Belgium.
Neurogenetics. 2021 Jul;22(3):207-213. doi: 10.1007/s10048-021-00635-8. Epub 2021 Mar 8.
A de novo 0.95 Mb 8p21.3 deletion had been identified in an individual with non-syndromic autism spectrum disorder (ASD) through high-resolution copy number variant analysis. Subsequent screening of in-house and publicly available databases resulted in the identification of six additional individuals with 8p21.3 deletions. Through case-based reasoning, we conclude that 8p21.3 deletions are rare causes of non-syndromic neurodevelopmental and neuropsychiatric disorders. Based on literature data, we highlight six genes within the region of minimal overlap as potential ASD genes or genes for neuropsychiatric disorders: DMTN, EGR3, FGF17, LGI3, PHYHIP, and PPP3CC.
通过高分辨率拷贝数变异分析，在一名非综合征性自闭症谱系障碍（ASD）个体中发现了一个从头开始的 0.95Mb8p21.3 缺失。随后对内部和公开数据库的进一步筛选，确定了另外 6 名 8p21.3 缺失的个体。通过基于案例的推理，我们得出结论，8p21.3 缺失是导致非综合征性神经发育和神经精神疾病的罕见原因。根据文献数据，我们强调了最小重叠区域内的六个基因，作为潜在的 ASD 基因或神经精神疾病基因：DMTN、EGR3、FGF17、LGI3、PHYHIP 和 PPP3CC。
