{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T20:53:14Z","timestamp":1793393594590,"version":"4.5.0"},"reference-count":14,"publisher":"Georg Thieme Verlag KG","issue":"06","funder":[{"DOI":"10.13039\/501100004229","name":"Fondazione Pierfranco e Luisa Mariani","doi-asserted-by":"crossref","award":["CM22"],"award-info":[{"award-number":["CM22"]}],"id":[{"id":"10.13039\/501100004229","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>KIRREL3 is a gene important for the central nervous system development\u2014in particular for the process of neuronal migration, axonal fasciculation, and synaptogenesis\u2014and colocalizes and cooperates in neurons with CASK gene. Alterations of KIRREL3 have been linked to neurodevelopmental disorders, ranging from developmental delay, to autism spectrum disorder, to attention deficit\/hyperactivity disorder. The underlying mechanism is not yet fully understood, as it has been hypothesized a fully dominant effect, a risk factor role of KIRREL3 partially penetrating variants, and a recessive inheritance pattern. We report a novel and de novo KIRREL3 mutation in a child affected by severe neurodevelopmental disorder and with brain magnetic resonance imaging evidence of mega cisterna magna and mild cerebellar hypoplasia. This case strengthens the hypothesis that dominant KIRREL3 variants may lead to neurodevelopmental disruption; furthermore, given the strong interaction between KIRREL3 and CASK, we discuss as posterior fossa anomalies may also be part of the phenotype of KIRREL3-related syndrome.<\/jats:p>","DOI":"10.1055\/s-0041-1725964","type":"journal-article","created":{"date-parts":[[2021,4,14]],"date-time":"2021-04-14T19:13:17Z","timestamp":1618427597000},"page":"484-488","source":"Crossref","is-referenced-by-count":13,"title":["A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia"],"prefix":"10.1055","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4100-7028","authenticated-orcid":false,"given":"Claudia","family":"Ciaccio","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8486-8461","authenticated-orcid":false,"given":"Emanuela","family":"Leonardi","sequence":"additional","affiliation":[{"name":"Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy"},{"name":"Fondazione Istituto di Ricerca Pediatrica, Citt\u00e0 della Speranza, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Polli","sequence":"additional","affiliation":[{"name":"Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy"},{"name":"Fondazione Istituto di Ricerca Pediatrica, Citt\u00e0 della Speranza, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Murgia","sequence":"additional","affiliation":[{"name":"Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy"},{"name":"Fondazione Istituto di Ricerca Pediatrica, Citt\u00e0 della Speranza, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5188-9418","authenticated-orcid":false,"given":"Stefano","family":"D'Arrigo","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Granocchio","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Chiapparini","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 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