Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1.

ABSTRACT:

Background

To investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.

Methods

A nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged echogenic polycystic kidney and oligoamnios were recruited. Pedigree WES, minigene splicing assay experiment and following bioinformatics analysis were performed to verify the effects, and inheritance pattern of diseasing-causing mutations.

Results

WES revealed that both fetuses were identified as carrying the same novel mutation c.3592_3628 + 45del, p.? and c.11207 T>C, p.(Ile3736Thr) in the PKHD1 gene (NM_138694.4), which inherited from the father and mother respectively. Both bioinformatic method pre

SUBMITTER: Zhang X 

PROVIDER: S-EPMC11250243 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature