[通过全基因组测序对胎儿肾异常进行产前诊断]
[Prenatal diagnosis of fetuses with renal anomalies by whole genome sequencing].
作者信息
Qiao Fengchang, Hu Ping, Zhang Cuiping, Wang Yan, Zhou Ran, Luo Chunyu, Xu Zhengfeng
机构信息
Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, Jiangsu 210004, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):819-823. doi: 10.3760/cma.j.cn511374-20210320-00255.
OBJECTIVE
To explore the genetic basis for fetuses with renal anomalies.
METHODS
Genomic DNA of four fetuses and their parents was extracted from amniotic fluid and peripheral blood samples and subjected to whole genome sequencing. Candidate variants were predicted according to the American College of Medical Genetics and Genomics (ACMG) guidelines and validated by SNP-array and Sanger sequencing.
RESULTS
Two fetuses were found to carry a 1.45 Mb pathogenic microdeletion in 17q12 and a pathogenic 1.85 Mb microduplication at 1q21.1-21.2, respectively. One fetus was found to harbor compound heterozygous variants c.8301del (p.Asn2768Thrfs18) and c.4481del (p.Asn1494Thrfs6) of the PKHD1 gene, which were predicted to be pathogenic. And one fetus has harbored homozygous c.1372dup (p.Thr458Asnfs*5) variants of the BBS12 gene, which was predicted to be likely pathogenic. All variants were validated by Sanger sequencing.
CONCLUSION
Whole genome sequencing can enable efficient prenatal diagnosis for fetuses with renal anomalies with high accuracy.
目的
探讨胎儿肾异常的遗传基础。
方法
从羊水和外周血样本中提取4例胎儿及其父母的基因组DNA，进行全基因组测序。根据美国医学遗传学与基因组学学会（ACMG）指南预测候选变异，并通过SNP芯片和桑格测序进行验证。
结果
发现2例胎儿分别在17q12携带一个1.45 Mb的致病性微缺失和在1q21.1 - 21.2携带一个致病性1.85 Mb的微重复。发现1例胎儿携带PKHD1基因的复合杂合变异c.8301del（p.Asn2768Thrfs18）和c.4481del（p.Asn1494Thrfs6），预测为致病性变异。还有1例胎儿携带BBS12基因的纯合c.1372dup（p.Thr458Asnfs*5）变异，预测可能为致病性变异。所有变异均经桑格测序验证。
结论
全基因组测序能够高效、准确地对肾异常胎儿进行产前诊断。
Zotero 插件