CTCF基因变异所致精神发育迟滞21型2例患儿的临床特征及遗传学分析  

Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene

作　　者：律玉强 宋风玲[2] 张开慧[1] 高敏[1] 马健[1] 王东[1] 宛雅 刘毅[1] 盖中涛[1] Lyu Yuqiang;Song Fengling;Zhang Kaihui;Gao Min;Ma Jian;Wang Dong;Wan Ya;Liu Yi;Gai Zhongtao(Jinan Pediatric Research Institute,Children′s Hospital Affiliated to Shandong University,Jinan,Shandong 250022,China;Department of Child Care,Children′s Hospital Affiliated to Shandong University,Jinan,Shandong 250022,China)

机构地区：[1]山东大学附属儿童医院(济南市儿童医院)儿科研究所,济南250022 [2]山东大学附属儿童医院(济南市儿童医院)儿童保健所,济南250022

出　　处：《中华医学遗传学杂志》2023年第5期543-546,共4页Chinese Journal of Medical Genetics

基　　金：山东省自然科学基金(ZR2020QC066);济南市卫生健康委员会科技计划(2019-1-35)。

摘　　要：目的分析2例发育迟缓患儿的临床及遗传学特征。方法以2021年8月18日就诊于山东大学附属儿童医院的2例患儿为研究对象, 对其进行临床和实验室检查。采集患儿及其父母的外周血样, 同时进行染色体核型和高通量测序分析。结果 2例患儿均表现为不同程度的发育迟缓, 染色体核型均为46, XX。高通量测序结果显示其分别携带CTCF基因c.489delG(p.Q165Rfs*14)和c.11571158delAT(p.Y386Cfs*22)移码变异, 二者均为新发变异且既往未见报道。结论 CTCF基因变异可能是2例患儿的遗传学病因。上述发现丰富了精神发育迟滞21型的基因变异谱, 可为阐明该病基因型与表型的相关性提供线索。Objective To explore the clinical and genetic characteristics of two children with developmental delay.Methods Two children who had presented at the Children′s Hospital Affiliated to Shandong University on August 18,2021 were enrolled as the study subjects.Clinical and laboratory examination,chromosomal karyotyping and high-throughput sequencing were carried out for both children.Results Both children had a 46,XX karyotype.High-throughput sequencing showed that they have respectively carried a c.489delG(p.Q165Rfs*14)and a c.1157_1158delAT(p.Y386Cfs*22)frameshifting variant of the CTCF gene,both had a de novo origin and were unreported previously.Conclusion The CTCF gene variants probably underlay the development delay in the two children.Above discovery has enriched the mutational spectrum of the CTCF gene,and has important implications for revealing the genotype-phenotype correlation for similar patients.

关 键 词：发育迟缓 精神发育迟滞21型 CTCF基因 高通量测序 

分 类 号：R749[医药卫生—神经病学与精神病学]