Non-invasive prenatal test for autosomal dominant Charcot-Marie-Tooth disease in a fetus using droplet digital polymerase chain reaction
10.3760/cma.j.cn113903-20210821-00714
- VernacularTitle:应用微滴式数字聚合酶链反应技术无创产前检测常染色体显性腓骨肌萎缩症胎儿一例
- Author:
Chen CHEN
1
;
Peng DAI
;
Ganye ZHAO
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心 450052
- Keywords:
Charcot-Marie-Tooth disease;
Polymerase chain reaction;
High-throughput nucleotide sequencing;
Genetic testing;
GTP phosphohydrolases;
Mitochondrial protei
- From:
Chinese Journal of Perinatal Medicine
2021;24(12):927-929
- CountryChina
- Language:Chinese
-
Abstract:
We report the use of droplet digital polymerase chain reaction (ddPCR) in non-invasive prenatal test fetal Charcot-Marie-Tooth disease (CMT) caused by MFN2 gene mutation. The proband, namely the husband, was found with heterozygous mutation of c.919A>G(p.K307E) in the MFN2 gene, which was diagnosed as CMT type 2A2A at a local hospital. The proband's wife underwent genetic counseling after conception at the First Affiliated Hospital of Zhengzhou University. Peripheral blood obtained from the pregnant woman was analyzed by ddPCR at eight gestational weeks, which found the fetus to carry a paternal pathogenic gene mutation. Sanger sequencing for the chorionic sample at 11 gestational weeks further verified that the fetus was a c.919G>A(p.K307E) heterozygous mutation carrier, the same as the proband. ddPCR could be applied to cell-free fetal DNA to detect the paternal pathogenic gene mutation in the non-invasive prenatal test.
