{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T20:49:03Z","timestamp":1786135743540,"version":"build-2736575974"},"reference-count":35,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","funder":[{"name":"Mitchell Charitable Trust"},{"DOI":"10.13039\/501100000405","name":"Kids Kidney Research","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000405","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000291","name":"Kidney Research UK","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000291","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000881","name":"Lowe Syndrome Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000881","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Grocers\u2019 Charity"},{"name":"David and Elaine Potter Charitable Foundation"},{"name":"St Peter\u2019s Trust for Kidney, Bladder, and Prostate Research"},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["387509280, SFB 1350"],"award-info":[{"award-number":["387509280, SFB 1350"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000881","name":"Lowe Syndrome Trust","doi-asserted-by":"publisher","award":["MU\/ML\/2016"],"award-info":[{"award-number":["MU\/ML\/2016"]}],"id":[{"id":"10.13039\/501100000881","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Erasmus program"},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["203141\/Z\/16\/Z"],"award-info":[{"award-number":["203141\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely understood. EHD1 belongs to a family of proteins presumably involved in the scission of intracellular vesicles and in ciliogenesis. However, the relevance of EHD1 in human tissues, in particular in the kidney, was unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genetic techniques were used in patients with tubular proteinuria and deafness to identify the disease-causing gene. Diagnostic and functional studies were performed in patients and disease models to investigate the pathophysiology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified six individuals (5\u201333 years) with proteinuria and a high-frequency hearing deficit associated with the homozygous missense variant c.1192C&gt;T (p.R398W) in\n                      <jats:italic toggle=\"yes\">EHD1<\/jats:italic>\n                      . Proteinuria (0.7\u20132.1 g\/d) consisted predominantly of low molecular weight proteins, reflecting impaired renal proximal tubular endocytosis of filtered proteins.\n                      <jats:italic toggle=\"yes\">Ehd1<\/jats:italic>\n                      knockout and\n                      <jats:italic toggle=\"yes\">Ehd1R398W\/R398W<\/jats:italic>\n                      knockin mice also showed a high-frequency hearing deficit and impaired receptor-mediated endocytosis in proximal tubules, and a zebrafish model showed impaired ability to reabsorb low molecular weight dextran. Interestingly, ciliogenesis appeared unaffected in patients and mouse models.\n                      <jats:italic toggle=\"yes\">In silico<\/jats:italic>\n                      structural analysis predicted a destabilizing effect of the R398W variant and possible inference with nucleotide binding leading to impaired EHD1 oligomerization and membrane remodeling ability.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      A homozygous missense variant of\n                      <jats:italic toggle=\"yes\">EHD1<\/jats:italic>\n                      causes a previously unrecognized autosomal recessive disorder characterized by sensorineural deafness and tubular proteinuria. Recessive\n                      <jats:italic toggle=\"yes\">EHD1<\/jats:italic>\n                      variants should be considered in individuals with hearing impairment, especially if tubular proteinuria is noted.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.2021101312","type":"journal-article","created":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T11:30:14Z","timestamp":1644579014000},"page":"732-745","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":14,"title":["A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness"],"prefix":"10.1681","volume":"33","author":[{"given":"Naomi","family":"Issler","sequence":"first","affiliation":[{"name":"Department of Renal Medicine, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Afonso","sequence":"additional","affiliation":[{"name":"Medical Cell Biology, University of Regensburg, Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irith","family":"Weissman","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Galilee Medical Center, Nahraia, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5529-2379","authenticated-orcid":false,"given":"Katrin","family":"Jordan","sequence":"additional","affiliation":[{"name":"Medical Cell Biology, University of Regensburg, Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Cebrian-Serrano","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Human Genetics, University of Oxford, Oxford, United 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