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GARP and EARP share the three subunits VPS51, VPS52 and VPS53, while VPS50 is unique to EARP and VPS54 to GARP. Retrograde transport of endosomal cargos to the trans-Golgi network is mediated by GARP and endocytic recycling by EARP.<\/jats:p>\n               <jats:p>Here we report two unrelated individuals with homozygous variants in VPS50, a splice variant (c.1978-1G&amp;gt;T) and an in-frame deletion (p.Thr608del). Both patients had severe developmental delay, postnatal microcephaly, corpus callosum hypoplasia, seizures and irritability, transient neonatal cholestasis and failure to thrive. Light and transmission electron microscopy of liver from one revealed the absence of gamma-glutamyltransferase at bile canaliculi, with mislocalization to basolateral membranes and abnormal tight junctions. Using patient-derived fibroblasts, we identified reduced VPS50 protein accompanied by reduced levels of VPS52 and VPS53. While the transferrin receptor internalization rate was normal in cells of both patients, recycling of the receptor to the plasma membrane was significantly delayed.<\/jats:p>\n               <jats:p>These data underscore the importance of VPS50 and\/or the EARP complex in endocytic recycling and suggest an additional function in establishing cell polarity and trafficking between basolateral and apical membranes in hepatocytes. Individuals with biallelic hypomorphic variants in VPS50, VPS51 or VPS53 show an overarching neurodegenerative disorder with severe developmental delay, intellectual disability, microcephaly, early-onset epilepsy and variable atrophy of the cerebellum, cerebrum and\/or brainstem. The term \u2018GARP\/EARP deficiency\u2019 designates disorders in such individuals.<\/jats:p>","DOI":"10.1093\/brain\/awab206","type":"journal-article","created":{"date-parts":[[2021,5,25]],"date-time":"2021-05-25T19:13:05Z","timestamp":1621969985000},"page":"3036-3049","source":"Crossref","is-referenced-by-count":15,"title":["Biallelic variants in <i>VPS50<\/i> cause a neurodevelopmental disorder with neonatal cholestasis"],"prefix":"10.1093","volume":"144","author":[{"given":"Pauline E","family":"Schneeberger","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin 682041, Kerala, 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Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Plecko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, 8010 Graz, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas R","family":"Janecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria"},{"name":"Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, 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