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March 14, 2026Kidney3600 citationsOpen Access

A Novel Anks6 Nonsense Variant Promotes Polycystic Kidney Disease in Han:SPRD-Cy Rats and its Homozygosity is Prenatally Lethal

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TPTrevor J. PembertonTWTanja WinterRHRichard Hemming

Key Points

  • The research focuses on the impact of a novel Anks6 nonsense variant on kidney disease progression and embryonic development.
  • Genetic analysis to identify the nonsense variant in Anks6.
  • Assessment of kidney disease progression in Han:SPRD-Cy rats with varying Anks6 expression.
  • Evaluation of embryonic development outcomes related to ANKS6 deficiency.
  • Absence of wild-type ANKS6 leads to accelerated progression of polycystic kidney disease.
  • Homozygous deficiency in ANKS6 results in failed normal embryonic development.

Abstract

We identified a novel nonsense variant in Anks6. The findings indicate that the absence of wild-type ANKS6 accelerates PKD development in the Han:SPRD-Cy rat, and that complete ANKS6 deficiency prevents normal embryonic development in rats.

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Cite This Study

Pemberton et al. (2026) studied this question.

synapsesocial.com/papers/69b4fcbdb39f7826a300d782https://doi.org/10.34067/kid.0000001168
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