{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T23:09:20Z","timestamp":1792624160246,"version":"4.5.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RF\u20102019\u201012370059"],"award-info":[{"award-number":["RF\u20102019\u201012370059"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009888","name":"Regione Toscana","doi-asserted-by":"publisher","award":["DECODE\u2010EE"],"award-info":[{"award-number":["DECODE\u2010EE"]}],"id":[{"id":"10.13039\/501100009888","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,1]]},"abstract":"ABSTRACT<\/jats:title>The centrosomal protein 83 (CEP83) is a centriolar protein involved in primary cilium assembly, an early and critical step in ciliogenesis. Bi\u2010allelic pathogenic variants in the CEP83<\/jats:italic> gene have been associated with infantile nephronophthisis and, in a few patients, retinitis pigmentosa. We describe a 5\u2010year\u2010old boy with bilateral perisylvian polymicrogyria, intellectual disability, and nephronophthisis in whom, using exome sequencing, we identified the c.1052T>G p.(Leu351*) stopgain variant inherited from the father and the c.2024T>C p.(Leu675Pro) missense variant inherited from the mother, in a compound heterozygous pattern. Polymicrogyria or, in general, malformations of cortical development had not been previously observed in patients with pathogenic CEP83<\/jats:italic> variants. However, defects in CEP83 can affect the formation and function of cilia or centrosomal structures, resulting in a polymicrogyric pattern overlapping with that associated with pathogenic variants affecting other genes coding for centrosomal components. This observation expands the spectrum of phenotypes associated with the CEP83<\/jats:italic> gene and adds it to the list of genes associated with bilateral perisylvian polymicrogyria.<\/jats:p>","DOI":"10.1002\/ajmg.a.63863","type":"journal-article","created":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T05:33:22Z","timestamp":1725255202000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Bilateral Perisylvian Polymicrogyria, Intellectual Disability\u00a0and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83<\/i><\/scp>\u00a0Gene"],"prefix":"10.1002","volume":"197","author":[{"given":"Elena","family":"Parrini","sequence":"first","affiliation":[{"name":"Neuroscience and Medical Genetics Department Meyer Children's Hospital IRCCS Florence 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