Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software.</p><p><b>RESULTS</b>Compound heterozygous mutations of c.11314C>T (p.Arg3772*) and a novel missense c.889T>A (p.Cys297Ser) of the PKHD1 gene were identified in the fetus. The mother was found to have carried the c.11314C>T mutation, while the father was found to have carried the c.889T>A mutation. PolyPhen-2 and SIFT predicted that the c.889T>A mutation is probably damaging.</p><p><b>CONCLUSION</b>A novel mutation in PKHD1 gene was detected in our ARPKD family. Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis for the fetus affected with ARPKD, which has facilitated genetic counseling and implement of prenatal diagnosis for the family.</p>