Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the <scp><i>PKHD1</i></scp> gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios-Reference-Cited by-同舟云学术

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

Published:2023-02 Issue:2 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Sakyu Takuya¹²^ORCID,Stover Samantha R.²³⁴,Wang Yue¹²^ORCID,Ward Patricia¹²,Gandhi Manisha³⁴^ORCID,Braun Michael C.³⁴⁵⁶,Van den Veyver Ignatia B.²³⁴^ORCID,Bi Weimin¹²^ORCID

Affiliation:

1. Baylor Genetics Houston Texas USA

2. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

3. Department of Obstetrics and Gynecology Baylor College of Medicine Houston Texas USA

4. Texas Children's Hospital Houston Texas USA

5. Division of Pediatrics Nephrology Baylor College of Medicine Houston Texas USA

6. Department of Pediatrics Baylor College of Medicine Houston Texas USA

Abstract

AbstractWe 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.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6692

Reference16 articles.

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4. ClinVar: improving access to variant interpretations and supporting evidence