Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.

ABSTRACT:

Background

Autosomal recessive polycystic kidney disease is a cystic kidney disease with early onset and clinically characterized by enlarged echogenic kidneys, hypertension, varying degrees of kidney dysfunction, and liver fibrosis. It is most frequently caused by sequence variants in the PKHD1 gene, encoding fibrocystin. In more rare cases, sequence variants in DZIP1L are seen, encoding the basal body protein DAZ interacting protein 1-like protein (DZIP1L). So far, only four different DZIP1L variants have been reported.

Methods

Four children from three consanguineous families presenting with polycystic kidney disease were selected for targeted or untargeted exome sequencing.

Results

We identified two different, previously not reported homozygous DZIP1L sequence vari

SUBMITTER: Hertz JM 

PROVIDER: S-EPMC9489574 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature