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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
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  • Takuya Sakyu,
  • Samantha Stover,
  • Yue Wang,
  • Patricia Ward,
  • Manisha Gandhi,
  • Michael Braun,
  • Ignatia B Van den Veyver,
  • Weimin Bi
Takuya Sakyu
Baylor Genetics

Corresponding Author:[email protected]

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Samantha Stover
Baylor College of Medicine
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Yue Wang
Baylor Genetics
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Patricia Ward
Baylor Genetics
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Manisha Gandhi
Baylor College of Medicine
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Michael Braun
Baylor College of Medicine
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Ignatia B Van den Veyver
Baylor College of Medicine
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Weimin Bi
Baylor Genetics
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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.
13 Sep 2022Submitted to Clinical Case Reports
14 Sep 2022Submission Checks Completed
14 Sep 2022Assigned to Editor
12 Oct 2022Reviewer(s) Assigned
27 Oct 2022Review(s) Completed, Editorial Evaluation Pending
08 Nov 2022Editorial Decision: Accept