Smith Amena W, Holden Kenton R, Dwivedi Alka, Dupont Barbara R, Lyons Michael J
Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, SC, USA.
Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, SC, USA Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA Greenwood Genetic Center, Greenwood, SC, USA.
J Child Neurol. 2015 Mar;30(4):517-21. doi: 10.1177/0883073814545113. Epub 2014 Oct 7.
A 10-year-old boy presented with a history of significant delay in language acquisition as well as receptive and expressive language impairment that persisted into elementary school. In school, he exhibited difficulty with reading comprehension, telling and understanding narratives, and making inferences. Other aspects of his neurodevelopment were normal, with no history of significant medical concerns. He did not have hearing impairment, oromotor dysfunction, or specific neurologic abnormalities. He did not meet testing criteria for autism. Chromosomal microarray analysis and quantitative polymerase chain reaction determined that he had a de novo 159-kilobase deletion of chromosome 16q24.1 that included the ATP2C2 gene. ATP2C2 is a known candidate gene for specific language impairment and is postulated to have neurobiological significance in memory-related circuits. Our patient's language deficits were consistent with a global type of specific language impairment impacting language comprehension, formulation, semantics, syntax, and phonology attributed to his de novo chromosome deletion.
一名10岁男孩，有语言习得显著延迟的病史，以及持续到小学阶段的接受性和表达性语言障碍。在学校里，他在阅读理解、讲述和理解叙事以及进行推理方面存在困难。他神经发育的其他方面正常，没有重大医疗问题史。他没有听力障碍、口面运动功能障碍或特定的神经学异常。他不符合自闭症的测试标准。染色体微阵列分析和定量聚合酶链反应确定他有16号染色体q24.1区域159千碱基的新发缺失，其中包括ATP2C2基因。ATP2C2是特定语言障碍的已知候选基因，据推测在与记忆相关的神经回路中具有神经生物学意义。我们患者的语言缺陷与一种全身性的特定语言障碍类型一致，这种障碍影响语言理解、表达、语义、句法和音韵，归因于他的新发染色体缺失。
