期刊
GENES
卷 11, 期 3, 页码 -出版社
MDPI
DOI: 10.3390/genes11030277
关键词
inherited tubulopathies; next generation sequencing; genetic heterogeneity; variant classification
资金
- European Union, FP7 European Consortium for High-Throughput Research in Rare Kidney Diseases (EURenOmics) [2012-305608]
- British Kidney Patient Association
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.
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