Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.

ABSTRACT:

Background

In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Case presentation

This healthy couple had previously had a healthy boy but had experienced two consecutive neonatal deaths due to respiratory distress resulting from pulmonary hypoplasia caused by oligohydramnios. The woman consulted our facility after she realized she was pregnant again. We promptly performed a carrier test for the PKHD1 gene by target exome sequencing of samples from the couple. A pathogenic mutation was identified only in the paternal allele (c.9008C>T, p.S3003F). The mutation was confirmed by Sanger sequencing of the DNA from formalin-fixed, paraffin-embedded, kidney tissue of the second neonate patien

SUBMITTER: Miyazaki J 

PROVIDER: S-EPMC4623244 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature