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

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

doi:10.1002/ccr3.6692

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

Clin Case Rep. 2023 Feb 23;11(2):e6692. doi: 10.1002/ccr3.6692. eCollection 2023 Feb.

Authors

Takuya Sakyu^{1

2

3}, Samantha R Stover^{2

4

5

6}, Yue Wang^{1

2}, Patricia Ward^{1

2}, Manisha Gandhi^{4

5}, Michael C Braun^{4

7

8

5}, Ignatia B Van den Veyver^{2

4

5}, Weimin Bi^{1

2}

Affiliations

¹ Baylor Genetics Houston Texas USA.
² Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA.
³ Present address: H.U. Group Research Institute GK Tokyo Japan.
⁴ Department of Obstetrics and Gynecology Baylor College of Medicine Houston Texas USA.
⁵ Texas Children's Hospital Houston Texas USA.
⁶ Present address: Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine Vanderbilt University Medical Center Nashville Tennessee USA.
⁷ Division of Pediatrics Nephrology Baylor College of Medicine Houston Texas USA.
⁸ Department of Pediatrics Baylor College of Medicine Houston Texas USA.

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.

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

Publication types

Case Reports