7q21.3-7q22.1拷贝数变异所致全面发育迟缓1例
A case of global development delay caused by 7q21.3-7q22.1 copy number variation
杨阳 1赵明明 2刘玉娟 3邓博心 1李忠良2
作者信息
- 1. 潍坊医学院附属医院/临床医学院/山东第二医科大学,山东潍坊 261000
- 2. 潍坊市妇幼保健院新生儿科,山东潍坊 261000
- 3. 潍坊市妇幼保健院中心供应室,山东潍坊 261000
- 折叠
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WEAVER™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.
Abstract
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 WEAVER™ 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 de-tected 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.
关键词
全面发育迟缓/7q21.3-7q22.1基因/拷贝数变异Key words
global development delay(GDD)/7q21.3-7q22.1 gene/copy number variation(CNV)引用本文复制引用
出版年
2024
NETL
NSTL
万方数据