摘要
目的对1例表现为精神发育迟滞、智力低下、语言发育迟缓、癫痫的患儿进行临床表型和遗传学分析。方法对患儿进行外周血常规染色体G显带核型分析。提取患儿及其父母全基因组DNA,应用高通量测序技术对患儿进行测序分析,并对疑似致病变异进行患儿及其父母的Sanger测序验证及生物信息学分析。结果常规染色体G显带核型分析结果患儿核型为46,XX,高通量基因测序结果显示患儿SYNGAP1基因存在c.1861C>T(p.R621X)杂合变异,该变异为无义变异,导致SYNGAP1蛋白翻译提前终止。经Sanger测序验证,患儿父母均未携带此杂合变异。结论SYNGAP1基因c.1861C>T(p.R621X)变异可能是患儿的遗传学病因,基因检测结果为明确诊断及遗传咨询提供了依据。
Objective To investigate the clinical and genetic features of a Chinese girl featuring mental retardation,intellectual disability,language development delay and epilepsy.Methods G-banded chromosomal karyotyping was carried out for the child.Genomic DNA of the patient and her parents was extracted and subjected to high-throughput sequencing.The results were analyzed with bioinformatic tools and validated by Sanger sequencing.Results The karyotype of the child was ascertained as 46,XX.Sequencing result showed that she has carried a de novo heterozygous c.1861C>T(p.R621X)variant of the SYNGAP1 gene.Conclusion The nonsense variant c.1861C>T(p.R621X)of the SYNGAP1 gene probably underlies the disease in this child.Above result has enabled genetic diagnosis and counseling for her family.
作者
高在芬
律玉强
张开慧
高敏
马健
王东
盖中涛
刘毅
Gao Zaifen;Lyu Yuqiang;Zhang Kaihui;Gao Min;Ma Jian;Wang Dong;Gai Zhongtao;Liu Yi(Jinan Pediatric Research Institute,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China;Epilepsy Center,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第6期661-664,共4页
Chinese Journal of Medical Genetics
