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Lookup NU author(s): Sarah Orr, Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© The Author(s) 2023. We are still learning the genetic basis for many rare diseases. Here we provide a commentary on the analysis of the genetic landscape of patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD), one of the most common genetic kidney diseases. Approaches including both phenotype first and genotype first allows some interesting and informative observations within this disease population. PKD1 and PKD2 are the most frequent genetic causes of ADPKD accounting for 78% and 15% respectively, whilst around 7–8% of cases have an alternative genetic diagnosis. These rarer forms include IFT140, GANAB, PKHD1, HNF1B, ALG8, and ALG9. Some previously reported likely pathogenic PKD1 and PKD2 alleles may have a reduced penetrance, or indeed may have been misclassified in terms of their pathogenicity. This recent data concerning all forms of ADPKD points to the importance of performing genetics tests in all families with a clinical diagnosis of ADPKD as well as those with more atypical cystic kidney appearances. Following allele identification, performing segregation analysis wherever possible remains vital so that we continue to learn about these important genetic causes of kidney failure.
Author(s): Orr S, Sayer JA
Publication type: Article
Publication status: Published
Journal: Journal of Rare Diseases
Year: 2023
Volume: 2
Online publication date: 01/09/2023
Acceptance date: 09/08/2023
Date deposited: 09/03/2026
ISSN (electronic): 2731-085X
Publisher: Springer Nature
URL: https://doi.org/10.1007/s44162-023-00017-8
DOI: 10.1007/s44162-023-00017-8
Data Access Statement: Data sharing not applicable to this article as no datasets were generated or analysed during the current study.
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