Veerapandiyan Aravindhan, Enner Stephanie, Thulasi Venkatraman, Ming Xue
Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School, Newark, NJ, USA.
Child Neurol Open. 2017 Aug 22;4:2329048X17726168. doi: 10.1177/2329048X17726168. eCollection 2017 Jan-Dec.
The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia. They were found to have a homozygous intragenic deletion within the Glutamate receptor, ionotropic, delta 2 gene at exon 2. Our patients serve as an addition to the literature of previously reported children with this rare clinical syndrome associated with Glutamate receptor, ionotropic, delta 2 deletion.
离子型谷氨酸δ2受体基因编码一种离子型谷氨酸δ-2受体，该受体在小脑浦肯野细胞中选择性表达，有助于小脑突触的组织和传递。与人类离子型谷氨酸δ2受体基因缺失相关的表型最初于2013年被确定。在本病例报告中，作者描述了2名兄弟，他们表现出发育迟缓、强直性上视、眼球震颤、眼球运动失用、肌张力减退、反射亢进和共济失调。他们被发现离子型谷氨酸δ2受体基因第2外显子存在纯合子基因内缺失。我们的患者为先前报道的患有这种与离子型谷氨酸δ2受体缺失相关的罕见临床综合征的儿童文献增添了新病例。
