目的 探讨1例神经发育障碍伴或不伴自闭症特征和(或)脑结构异常患儿的遗传学病因。 方法 选取2021年7月至郑州大学第三附属医院就诊的1例NEDASB患儿为研究对象。抽取患儿及其父母的外周血样，采用高通量测序技术对患儿进行基因检测，对候选变异进行Sanger测序验证以及生物信息学分析。 结果 基因检测结果显示患儿携带NOVA2基因c.820_828delinsCTTCA(p.Thr274Leufs*121)杂合变异。其父母均未携带相同的变异。根据美国医学遗传学与基因组学学会相关指南，判断其为致病变异。 结论 NOVA2基因c.820_828delinsCTTCA(p.Thr274Leufs*121)杂合变异可能是本例患儿的遗传学病因。上述发现丰富了NOVA2基因的变异谱，为遗传咨询及产前诊断提供了依据。 Objective To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities(NEDASB). Methods A child with NEDASB who presented the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Results The child was found to harbor a heterozygous c. 820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. Conclusion The heterozygous c. 820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.
Abstract
Objective To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities(NEDASB). Methods A child with NEDASB who presented the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Results The child was found to harbor a heterozygous c. 820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. Conclusion The heterozygous c. 820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.
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