Division of Laboratory, Kunming Children's Hospital affiliated with Kunming Medical University, Kunming 650028, China.
Institute of Pediatrics, The Kunming Children's Hospital, Key Laboratory of Child Critical Disease Research of Yunnan Province, Kunming 650028, China.
Biomed Res Int. 2021 Feb 26;2021:6644274. doi: 10.1155/2021/6644274. eCollection 2021.
Neurodevelopmental disorder caused by malformations of cortical development is a rare neurological disease. Heterozygous missense variants in the gene lead to malformations of human cortical development, which further result in intellectual disability, developmental retardation, and epilepsy. To the best of our knowledge, only thirteen patients and a total of nine pathogenic variants have been described in the published literature. This study reports the case details and genetic data analysis of a girl (aged 8 years, 9 months) with developmental delay, psychomotor regression, epilepsy, and left external ear deformity. A novel mutation was identified by whole-exome sequencing and Sanger sequencing, confirming that this mutation may be the cause of the neurodevelopmental disorders. This case report characterizes the phenotypic spectrum, molecular genetic findings, and functional consequences of novel pathogenic variants in neurodevelopmental disorders caused by cortical development malformations.
由皮质发育畸形引起的神经发育障碍是一种罕见的神经疾病。基因中的杂合错义变异导致人类皮质发育畸形，进而导致智力残疾、发育迟缓以及癫痫。据我们所知，在已发表的文献中仅描述了 13 名患者和总共 9 种致病性变异。本研究报告了一名 8 岁 9 个月大的女孩的病例详细信息和遗传数据分析，该女孩患有发育迟缓、精神运动倒退、癫痫和左外耳畸形。通过全外显子组测序和 Sanger 测序鉴定出一种新型突变，证实该突变可能是神经发育障碍的原因。本病例报告描述了由皮质发育畸形引起的神经发育障碍的表型谱、分子遗传学发现以及新型致病性变异的功能后果。
