Ma Yanyan, Yu Chunmei, Zhang Kaihui, Jin Ruifeng, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):147-149. doi: 10.3760/cma.j.issn.1003-9406.2020.02.011.
To explore the genetic etiology of a girl featuring epilepsy, speech delay and mild mental retardation.
Peripheral blood samples of the child and her parents were collected. Genomic DNA was extracted and subjected to next generation sequencing. Suspected variant was confirmed by Sanger sequencing.
The child was found to carry a de novo heterozygous c.3592G>A (p.V1198M) variant of the SMARCA2 gene, which was predicted to be pathogenic by bioinformatic analysis.
The child was diagnosed with Nicolaides-Baraitser syndrome due to heterozygous variant of the SMARCA2 gene.
探讨一名患有癫痫、语言发育迟缓及轻度智力障碍女孩的遗传病因。
采集该患儿及其父母的外周血样本。提取基因组DNA并进行下一代测序。通过桑格测序确认疑似变异。
发现该患儿携带SMARCA2基因的一个新生杂合c.3592G>A（p.V1198M）变异，经生物信息学分析预测该变异具有致病性。
该患儿因SMARCA2基因的杂合变异被诊断为尼古拉德斯 - 巴拉伊泽综合征。
