{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T11:39:04Z","timestamp":1784806744271,"version":"3.55.0"},"reference-count":82,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"805","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Sci. Transl. Med."],"published-print":{"date-parts":[[2025,7,2]]},"abstract":"<jats:p>Ritscher-Schinzel syndrome (RSS) is a congenital malformation syndrome characterized by cerebellar, cardiac, and craniofacial malformations and phenotypes associated with liver, skeletal, and kidney dysfunction. The genetic cause of RSS remains to be fully defined, and limited information is available regarding the root cause of the multiple tissue phenotypes. Causative mutations in the Commander multiprotein assembly are an emerging feature of this syndrome. Commander organizes the sorting nexin-17 (SNX17)\u2013dependent recycling of hundreds of integral membrane proteins through the endosomal network. Here, we identify previously unrecognized cohorts of patients with RSS that we genetically and clinically analyzed to identify causative genes in the copper metabolic murr1 domain\u2013containing (COMMD) proteins COMMD4, COMMD9, and coiled-coil domain containing 93 (CCDC93) subunits of the Commander complex. Using interactome analysis, we determined that these mutations disrupted Commander assembly and, through cell surface proteomics, that this reduces tissue-specific presentation of cell surface integral membrane proteins essential for kidney, bone, and brain development. We established that these integral proteins contained \u03a6xNPxY\/F or \u03a6xNxxY\/F sorting motifs in their cytoplasmic-facing domains (where \u03a6 is a hydrophobic residue and x is any residue) that are recognized by SNX17 to drive their Commander-dependent endosomal recycling. Last, through generation of mouse models of RSS, we show replication of RSS-associated clinical phenotypes including proteinuria, skeletal malformation, and neurological impairment. Our data establish RSS as a \u201crecyclinopathy\u201d that arises from a dysfunction in the Commander endosomal recycling pathway.<\/jats:p>","DOI":"10.1126\/scitranslmed.adt2426","type":"journal-article","created":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T17:58:31Z","timestamp":1751479111000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":6,"title":["Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy"],"prefix":"10.1126","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5704-2936","authenticated-orcid":true,"given":"Kohji","family":"Kato","sequence":"first","affiliation":[{"name":"School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK."},{"name":"Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3543-7491","authenticated-orcid":true,"given":"Yosuke","family":"Nishio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan."},{"name":"Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan."},{"name":"Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, 464-0805, Japan."},{"name":"Medical Genomics Center, Nagoya University Hospital, Nagoya, 466-8550, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4619-3309","authenticated-orcid":true,"given":"Kirsty J.","family":"McMillan","sequence":"additional","affiliation":[{"name":"School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 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Chen Structural basis for Retriever-SNX17 assembly and endosomal sorting. bioRxiv 584676 [Preprint] (2024). 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