Hunter Genetics, Newcastle, New South Wales, Australia; School of Medicine and Public Health, The University of Newcastle, Newcastle, New South Wales, Australia.
Am J Med Genet A. 2014 Mar;164A(3):782-8. doi: 10.1002/ajmg.a.36345. Epub 2013 Dec 19.
We present a patient with a behavioral disorder, epilepsy, and autism spectrum disorder who has a 520 kb chromosomal deletion at 15q26.1 encompassing three genes: ST8SIA2, C15orf32, and FAM174B. Alpha-2,8-Sialyltransferase 2 (ST8SIA2) is expressed in the developing brain and appears to play an important role in neuronal migration, axon guidance and synaptic plasticity. It has recently been implicated in a genome wide association study as a potential factor underlying autism, and has also been implicated in the pathogenesis of bipolar disorder and schizophrenia. This case provides supportive evidence that ST8SIA2 haploinsufficiency may play a role in neurobehavioral phenotypes.
我们介绍了一位患有行为障碍、癫痫和自闭症谱系障碍的患者，其 15q26.1 染色体缺失了 520kb，包含三个基因：ST8SIA2、C15orf32 和 FAM174B。α-2,8-唾液酸转移酶 2（ST8SIA2）在发育中的大脑中表达，似乎在神经元迁移、轴突导向和突触可塑性中发挥重要作用。最近的全基因组关联研究表明，它是自闭症的潜在因素，也与双相情感障碍和精神分裂症的发病机制有关。本病例提供了支持性证据，表明 ST8SIA2 杂合性缺失可能在神经行为表型中发挥作用。
