Transport defects in the cilium cause renal dysfunction and abnormal skeleton development

Heleen Arts

Researchers from the Department of Human Genetics from the Radboud University Nijmegen Medical Centre together with scientists from Norway and France identified that defects in the WDR19 gene can result in ciliary transport defects that result in rare genetic disorders (Jeune syndrome, Sensenbrenner syndrome and isolated nephronophthisis) that are characterized by skeletal and/or chronic renal disease. These results were published in the high-impact journal American Journal of Human Genetics in the report "Skeletal Anomalies and Renal Insuffiency due to Mutations in the IFT-A Gene WDR19". WDR19 encodes IFT144, a protein that together with 5 other IFT protein forms a particle that together with a dynein motor regulates tip-to-base transport in the cilium, an antenna-like organelle that occurs in almost all vertebrate cells and that is essential for human development and tissue homeostasis.WDR19 is the third 'IFT' gene that was associated with Sensenbrenner syndrome by the Nijmegen group. In 2010 and 2011, two more articles were published that describe the identification of mutations in WDR35 (encoding IFT121) and C14ORF179 (encoding IFT43), respectively.

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