Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.

Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that primarily involves the kidneys and hepatobiliary tract. The polycystic kidney and hepatic disease 1 (PKHD1) gene is the only gene implicated in The present study aimed to identify PKHD1 mutations causing in a Chinese family. A couple that underwent prenatal genetic diagnosis for duanyu37KD and their families were recruited for the present study. Genomic DNA was collected from the amniotic fluid of the fetus (proband) and from peripheral blood of all other available family members. Targeted exome sequencing was performed on the couple and the proband, followed by direct Sanger sequencing on other family members and normal controls to confirm candidate pathogenic variants. Two novel compound heterozygous mutations in the PKHD1 gene were identified as causative in the proband, including maternally inherited c.2876C>T (p.Ser959Phe) and paternally inherited c.5772C>A (p.Phe1924Leu). Each mutation was found to co‑segregate with the duanyu37KD phenotype in the family. Other family members either carried one of the two mutations or lacked both mutations, while the mutations were not found in 576 ethnically matched normal controls. Therefore, two novel compound heterozygous PKHD1 mutations were implicated in causing duanyu37KD in a Han Chinese family. The results expand the mutation spectrum of PKHD1 that leads to which may improve genetic counseling and prenatal diagnosis for families with

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