发现发育迟缓和智力障碍的遗传贡献者:专注于儿科患者的CNV
Yilun Tao1,2, Hongzhi Guo3, Dong Han1
1Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
染色体微阵列分析 (CMA) 有效用于诊断儿童发育迟缓 (DD) 和智力障碍 (ID) 的遗传原因. 这项研究发现,儿科患者的拷贝数变异 (CNV) 诊断率为30.3%.
科学领域:
- 儿科遗传学 儿科遗传学
- 神经发育障碍 神经发育障碍
- 基因组医学是基因组医学.
背景情况:
- 发育迟缓 (DD) 和智力障碍 (ID) 在儿童中很常见,通常与像副本数变异 (CNVs) 这样的遗传因素有关.
- 染色体微阵列分析 (CMA) 和全外因子测序 (WES) 对于确定这些疾病的遗传原因至关重要.
- 了解CNV的患病率和影响对于准确诊断和治疗儿科DD和ID至关重要.
研究的目的:
- 评估在被诊断为DD或ID的儿科患者中CNV的患病率和临床意义.
- 在这个患者群体中确定CMA和WES的诊断产量.
- 描述已识别的CNV的类型,遗传模式和常见位置.
主要方法:
- 99名患有DD或ID的儿科患者接受了CMA (SNP阵列) 或WES.
- 使用已建立的数据库和ACMG指南,分析了副本数变异 (CNV) 的致病性.
- 在可能的情况下,确定了遗传模式,包括新出现的情况.
主要成果:
- 在40名患者中共发现了43种CNV,临床上显著的CNV的诊断率为30.3%.
- 删除占确定CNV的75%,其次是重复 (22%).
- 大约65.2%的已知遗传性CNV是de novo,经常在特定染色体区域发现复发性CNV (例如,15q11.2-q13.1,16p11.2,22q11.2).
结论:
- CMA是儿科DD和ID的有效诊断工具,证实了CNVs的重要作用.
- 基于家庭的CNV测试对于遗传咨询和理解遗传是很重要的.
- 为了提高诊断准确性,全面的基因测试是必不可少的;未来的多组学研究可能会澄清不确定的意义 (VOUS) 和CNV变异性的变异.
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