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Inherited Renal Tubulopathies—Challenges and Controversies

by 1,* and 2
UCL-Centre for Nephrology, Royal Free Campus, University College London, Rowland Hill Street, London NW3 2PF, UK
Rare & Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children National Health Service Foundation Trust, Levels 4-6 Barclay House 37, Queen Square, London WC1N 3BH, UK
Author to whom correspondence should be addressed.
Received: 11 February 2020 / Revised: 29 February 2020 / Accepted: 29 February 2020 / Published: 5 March 2020
(This article belongs to the Special Issue Genetics of Tubulopathies)
Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism. Establishing a genetic diagnosis in patients with renal tubular dysfunction is a challenging task given the genetic and phenotypic heterogeneity, functional characteristics of the genes involved and the number of yet unknown causes. Part of these difficulties can be overcome by gathering large patient cohorts and applying high-throughput sequencing techniques combined with experimental work to prove functional impact. This approach has led to the identification of a number of genes but also generated controversies about proper interpretation of variants. In this article, we will highlight these challenges and controversies. View Full-Text
Keywords: inherited tubulopathies; next generation sequencing; genetic heterogeneity; variant classification. inherited tubulopathies; next generation sequencing; genetic heterogeneity; variant classification.
MDPI and ACS Style

Iancu, D.; Ashton, E. Inherited Renal Tubulopathies—Challenges and Controversies. Genes 2020, 11, 277.

AMA Style

Iancu D, Ashton E. Inherited Renal Tubulopathies—Challenges and Controversies. Genes. 2020; 11(3):277.

Chicago/Turabian Style

Iancu, Daniela, and Emma Ashton. 2020. "Inherited Renal Tubulopathies—Challenges and Controversies" Genes 11, no. 3: 277.

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