Gene variant analysis of a fetus with autosomal recessive polycystic kidney disease / 中华医学遗传学杂志

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.