Compound Heterozygosity of a De Novo Submicroscopic Deletion and an Inherited Frameshift Pathogenic Variant in the PKHD1 Gene in a Fetus with Bilaterally Enlarged and Echogenic Kidneys, Enlarged Abdomen and Oligohydramnios

Authors

Takuya Sakyu
Samantha R Stover
Yue Wang
Patricia Ward
Manisha Gandhi
Michael C Braun
Ignatia B Van den Veyver
Weimin Bi

Publication Date

2-1-2023

Journal

Clinical Case Reports

DOI

10.1002/ccr3.6692

PMID

36846174

PMCID

PMC9950036

PubMedCentral® Posted Date

2-23-2023

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes

Keywords

22q11.21 microdeletion/duplication, ARPKD, autosomal recessive disorder, copy number variants, PKHD1, prenatal CMA

Abstract

We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive polycystic kidney disease (ARPKD) with a prenatally detected disease‐causing PKHD1 deletion.