摘要
目的探讨1例全面发育迟缓(GDD)患者7q21.3-7q22.1基因的变异特点,为其临床诊断与遗传咨询提供依据。方法选取1例GDD患者为研究对象,收集患者的临床资料。通过全外显子组测序对患者进行基因检测,以及WEAVERTM算法检测外显子层面的DNA拷贝数变异。结果全外显子组测序结果显示患儿在7q21.3-7q22.1区段存在重复:(chr7:?_93055667-101899117_?)×3(精确断裂点未知),既往未见文献报道。患儿父母该位点均未见异常,提示患儿为新发突变。结论7q21.3-7q22.1拷贝数变异可能为该患儿的遗传学病因。
Objective To explore the characteristics of 7q21.3-7q22.1 gene in a patient with global development delay(GDD),in order to provide a feasibility basis for clinical diagnosis and genetic counseling of this disease.Methods A child with GDD was selected as the study subject.Clinical data of the patient were reviewed.Whole-exome gene sequencing was used for gene detection,and WEAVERTM algorithm was used for DNA copy number variation(CNV)at exon level.Results A microduplication at 7q21.3-7q22.1:(chr7:?_93055667-101899117_?)×3 was identified by whole-exome gene sequencing(The exact breaking point is unknown),this was new mutation had not been reported before.No abnormalities in this site were detected in the parents,suggesting that was a new mutation.Conclusion 7q21.3-7q22.1 copy number variation may be the causative agent of this child,respectively.
作者
杨阳
赵明明
刘玉娟
邓博心
李忠良
YANG Yang;ZHAO Mingming;LIU Yujuan;DENG Boxin;LI Zhongliang(Affiliated Hospital of Weifang Medical University,School of Clinical Medicine,Shandong Second Medical University,Weifang,Shandong 261000,China;Newborns in Weifang Maternal and Child Health Hospital,Weifang,Shandong 261000,China;Weifang Maternal and Child Health Hospital Center Supply Room,Weifang,Shandong 261000,China)
出处
《中国优生与遗传杂志》
2024年第6期1229-1233,共5页
Chinese Journal of Birth Health & Heredity
