September 21, 2025Clinical Genetics

Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature

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Authors

RAReem H. Al‐Hadidi LSLina A. Abu Sirhan

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Implication

Case report reveals a pdia6 gene mutation contributing to severe autosomal recessive polycystic kidney disease, highlighting the role of genomic sequencing in diagnosis.

Key Points

A homozygous deletion in pdia6 was identified, leading to severe symptoms in the neonate.
Genetic analysis utilized whole-exome sequencing to uncover the mutation causing early-onset kidney failure.
The case emphasizes the significance of early diagnosis through genomic tools for better management and prognosis.
Understanding pdia6's role in protein folding highlights new avenues in hereditary renal disorder research.

Cite This Study

Al‐Hadidi et al. (2025) studied this question.

synapsesocial.com/papers/68d43c8e713b0b5dfea7c829 https://doi.org/10.1111/cge.70074

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Implication

Case report reveals a pdia6 gene mutation contributing to severe autosomal recessive polycystic kidney disease, highlighting the role of genomic sequencing in diagnosis.

Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature

Discussion

Member takes

Implication

Key Points

Cite This Study

Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature

Discussion

Member takes

Implication

Key Points

Cite This Study

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