{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T19:39:24Z","timestamp":1781811564065,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T00:00:00Z","timestamp":1750636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T00:00:00Z","timestamp":1750636800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    WDR91, a WD40 repeat domain\u2010containing protein, is a key regulator of endosomal trafficking, lysosomal function, and autophagy. It acts as a Rab7 effector, forming a complex with WDR81 to modulate phosphatidylinositol 3\u2010kinase (PI3K) activity, endosomal maturation, and lysosome homeostasis. Loss\u2010of\u2010function variants in\n                    <jats:italic>WDR91<\/jats:italic>\n                    are considered related to endosomal accumulation, impaired cargo degradation, and neurodegeneration. In this report, an autosomal recessive neurodevelopmental disorder is proposed, associated with WDR91 loss\u2010of\u2010function in a consanguineous family. The patient presented with severe microcephaly, dysmorphic features, and organomegaly, along with early onset psychomotor delay, hypotonia, sensorineural hearing impairment, and visual impairment. Whole\u2010exome sequencing (WES) identified a homozygous splice site variant, NM_014149.4:c.1395+1G&gt;A, predicted to disrupt the donor site and classified as likely pathogenic (PVS1, PM2). The variant was absent from population databases and our internal in\u2010house cohort. Functional analysis supports a pathogenic role for the variant. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development, as evidenced in Wdr91 knockout models. Our study expands the clinical and genetic spectrum of WDR91\u2010related disorders and highlights the need for further investigations to elucidate the precise molecular mechanisms underlying WDR91\u2010associated pathogenesis.\n                  <\/jats:p>","DOI":"10.1111\/cge.70012","type":"journal-article","created":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T21:30:03Z","timestamp":1750714203000},"page":"176-180","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Unraveling the Role of\n                    <scp>WDR91<\/scp>\n                    : Case Report of a Previously Unrecognized Clinical Entity"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7078-3253","authenticated-orcid":false,"given":"Nikolaos M.","family":"Marinakis","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital National and Kapodistrian University of Athens  Athens Greece"},{"name":"Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afrodite","family":"Kampouraki","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6548-0928","authenticated-orcid":false,"given":"Danai","family":"Veltra","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital National and Kapodistrian University of Athens  Athens Greece"},{"name":"Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faidon\u2010Nikolaos","family":"Tilemis","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital National and Kapodistrian University of Athens  Athens Greece"},{"name":"Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Vasilopoulou","sequence":"additional","affiliation":[{"name":"B' Pediatric Clinic, Agia Sofia Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aikaterini","family":"Dokou","sequence":"additional","affiliation":[{"name":"B' Pediatric Clinic, Agia Sofia Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elissavet","family":"Georgiadou","sequence":"additional","affiliation":[{"name":"First Department of Paediatrics National and Kapodistrian University of Athens, \u2018Aghia Sophia\u2019 Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Euthalia","family":"Karavergou","sequence":"additional","affiliation":[{"name":"First Department of Paediatrics National and Kapodistrian University of Athens, \u2018Aghia Sophia\u2019 Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Christolouka","sequence":"additional","affiliation":[{"name":"First Department of Paediatrics National and Kapodistrian University of Athens, \u2018Aghia Sophia\u2019 Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Alexopoulos","sequence":"additional","affiliation":[{"name":"Special Unit of Dermatology, First Department of Pediatrics National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitra","family":"Kirillidi","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit (NICU) of the Department of Pediatrics University of Thessaly, University General Hospital of Larissa  Larissa Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Goudesidou","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit (NICU) of the Department of Pediatrics University of Thessaly, University General Hospital of Larissa  Larissa 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the Academy of Athens  Athens Greece"},{"name":"Department of Genetic Medicine and Development, Medical School University of Geneva  Geneva 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