Gene variant analysis of a fetus with autosomal recessive polycystic kidney disease.
10.3760/cma.j.cn511374-20191027-00544
- Author:
Xinyou YU
1
;
Shuxia LI
;
Fang LIU
;
Linying LIU
;
Huiping ZHANG
Author Information
1. Prenatal Diagnosis Center, General Hospital of Ningxia Medical University, Yinchuan, Ningxia 750001, China. 68053266@qq.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(10):1143-1145
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a fetus with autosomal recessive polycystic kidney disease (ARPKD).
METHODS:Fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple. Following extraction of genomic DNA, genetic testing was carried out.
RESULTS:The fetus was found to carry compound heterozygous variants of the PKHD1 gene, namely c.5336A>T (p.N1779I) and c.9455delA (p.N3152Tfs*10), which were respectively inherited from the husband and wife.
CONCLUSION:The c.5336A>T and c.9455delA variants of the PKHD1 gene probably account for the ARPKD in the fetus. Above results have enabled genetic counseling and prenatal diagnosis for the couple.
