Prenatal diagnosis for Walker-Warburg syndrome by whole exome sequencing
10.13602/j.cnki.jcls.2018.05.01
- VernacularTitle:全外显子测序产前诊断Walker-Warburg综合征
- Author:
Fengchang QIAO
1
;
Ping HU
;
Ying LIN
;
Yan WANG
;
Hang LI
;
Xiuqing JI
;
Chunyu LUO
;
Zhengfeng XU
Author Information
1. 南京医科大学附属妇产医院
- Keywords:
whole exome sequencing;
POMT1;
Walker-Warburg syndrome;
gene mutation;
prenatal diagnosis
- From:
Chinese Journal of Clinical Laboratory Science
2018;36(5):321-323
- CountryChina
- Language:Chinese
-
Abstract:
Objective To perform prenatal diagnosis for a fetus with hydrocephalus and congenital heart disease by whole exome se-quencing ( WES) , and then provide genetic counseling for the next pregnancy. Methods DNAs from amniotic fluid cells of the fetus and peripheral blood of his/her parents were extracted, respectively, and then performed WES. After the process of library construc-tion, hybrid capture and sequencing, the obtained data were compared with the database from human genome and literatures and ana-lyzed by software. The pathogenic mutations were searched based on the American College of Medical Genetics and Genomics ( ACMG, 2015) guideline and verified by the Sanger sequencing. Results The WES results found that the compound heterozygous mutations ex-isted in POMT1 gene of the fetus, which were inherited from the splice site mutation c.605+1G>A( IVS7) of his/her mother and the frameshift mutation c.1367 c.1368 ( exon 15) insGA, p. L456Lfs?80 of his/her father, respectively. The Sanger sequencing results were consistent with that of WES. The fetus was affected by Walker-Warburg syndrome, and his/her parents decided to terminate the pregnancy finally. Conclusion The WES may diagnose Walker-Warburg syndrome rapidly and accurately, which may play an impor-tant role in clinical management and genetic counseling.
