New insights into Ciliopathies

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In an international collaboration between research groups based in the Netherlands, Australia, the United States, Singapore, the UK, and Sweden, graduate students Margot Reijnders and Brooke Latour of the Dept. of Human Genetics, theme Renal disorders characterized the ciliopathy-like syndrome of 17 female patients with de novo, heterozygous mutations in the X-linked, deubiquitinating enzyme, USP9X.

USP9X has previously been implicated in intellectual disability in males, however this is the first paper to show affected females. The research, published in the American Journal of Human Genetics, further demonstrates a potential link between USP9X and ciliary biology. Ciliopathies result from defects in primary cilia, the antenna-like extensions that protrude from most mammalian cell types, and are characterized by a wide set of symptoms including intellectual disability, polydactyly, brain and skeletal abnormalities, and cystic kidneys. Female patients with USP9X mutations present with redundant and overlapping, syndromic features, that closely mimic the symptoms seen in ciliopathies.

The Human Genetics department of the Radboudumc spear headed this work, lead by Clinical Geneticists Tjitske Kleefstra and Han Brunner and ciliopathy researcher Ronald Roepman. Unraveling the link between USP9X and the cilium could be an essential point for furthering our understanding of ciliary function, leading to advances in treatment for patients. 

Publication 

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Brooke Latour                                                   Margot Reijnders


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