一例8q21.11缺失综合征患儿的临床表型与遗传学诊断  

Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome

作　　者：李素丽[1] 吴维青[1] 谢建生[1] 李海飞[1] Li Suli;Wu Weiqing;Xie Jiansheng;Li Haifei(Medical Genetics Center,Shenzhen Maternal and Child Health Care Hospital Affiliated to Southern Medical University,Shenzhen,Guangdong 518017,China)

机构地区：[1]深圳市妇幼保健院,518017

出　　处：《中华医学遗传学杂志》2021年第2期145-149,共5页Chinese Journal of Medical Genetics

基　　金：广东省医学科研基金(A2018213)。

摘　　要：目的对1例角膜混浊新生儿进行染色体拷贝数变异分析,明确其遗传学病因。方法应用常规G显带染色体核型分析技术分析患儿及其父母的外周血染色体核型,用全基因组低深度测序及单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNP array)对患儿及其父母进行基因组拷贝数变异分析。结果G显带结果显示患儿及其父母染色体核型均未见异常,全基因组低深度测序结果显示患儿染色体8q21.11-q21.13区存在5.5 Mb杂合缺失,为新发突变,缺失区域包含ZFHX4、PEX2等基因,该结果在SNP array平台得到验证。结论患儿诊断为8q21.11缺失综合征,ZFHX4可能是该综合征的关键基因之一。Objective To explore the genetic etiology for a newborn with corneal opacity.Methods The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis.Copy number variation(CNV)was analyzed with low-coverage whole-genome sequencing(WGS)and single nucleotide polymorphism microarray(SNP array).Results No karyotypic abnormality was found with the newborn and her parents.Low-coverage WGS identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate which encompassed the ZFHX4 and PEX2 genes.The result was confirmed by SNP array-based CNV analysis.Conclusion The newborn was diagnosed with chromosome 8q21.11 deletion syndrome.ZFHX4 may be one of the key genes underlying the 8q21.11 microdeletion syndrome.

关 键 词：8q21.11缺失综合征 角膜混浊 拷贝数变异 ZFHX4基因 

分 类 号：R725.9[医药卫生—儿科]