{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:45:37Z","timestamp":1763037937978,"version":"3.41.2"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Rotatin, encoded by the <jats:italic>RTTN<\/jats:italic> gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in <jats:italic>RTTN<\/jats:italic> are associated with a neurodevelopmental disorder with microcephaly and malformations of cortical development known as \u201cMicrocephaly, short stature, and polymicrogyria with seizures\u201d (MSSP, MIM #614833). Affected individuals show a wide spectrum of clinical manifestations like intellectual disability, poor\/absent speech, short stature, microcephaly, and congenital malformations. Here, we report a subject showing a distinctive neuroradiological phenotype and harboring novel biallelic variants in <jats:italic>RTTN<\/jats:italic>: the c.5500A&amp;gt;G, p.(Asn1834Asp), (dbSNP: rs200169343, ClinVar ID:1438510) and c.19A&amp;gt;G, p.(Ile7Val), (dbSNP: rs201165599, ClinVar ID:1905275) variants. In particular brain magnetic resonance imaging (MRI) showed a peculiar pattern, with cerebellar hypo-dysplasia, and multiple arachnoid cysts in the lateral cerebello-medullary cisterns, in addition to left Meckel cave. Thus, we compare his phenotypic features with current literature, speculating a possible role of newly identified <jats:italic>RTTN<\/jats:italic> variants in his clinical picture, and supporting a relevant variability in this emerging condition.<\/jats:p>","DOI":"10.3389\/fped.2023.1326552","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T04:29:12Z","timestamp":1703132952000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar 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