{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T23:39:06Z","timestamp":1793403546627,"version":"4.5.0"},"reference-count":60,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:00:00Z","timestamp":1759968000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Department of Health Sciences, Universit\u00e0 del Piemonte Orientale, RIVgiordanomFONDI_ATENEO"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Autosomal dominant intellectual developmental disorder 51 (MIM #617788) is caused by pathogenic variants in KMT5B, a histone methyltransferase essential for transcriptional repression and central nervous system development. The disorder manifests as a complex neurodevelopmental syndrome with variable neurological and systemic features. Methods: Two adolescents with nonsense KMT5B variants underwent detailed clinical, neuropsychological, and neuroimaging evaluations, including MRI and 18FDG PET\/CT, analyzed with Statistical Parametric Mapping against matched controls. RNA sequencing was performed, and the literature was reviewed to assess genotype\u2013phenotype correlations. Results: Both patients showed global developmental delay, progressing to autism spectrum disorder (ASD) and developmental coordination disorder (DCD), without intellectual disability (ID). The MRI was normal, but neuropsychological testing revealed executive function impairment, expressive language deficits, and behavioral disturbances. PET\/CT consistently demonstrated cerebellar and temporal lobe hypometabolism, correlating with symptom severity. RNA sequencing identified shared dysregulated pathways, notably DDIT4 upregulation, linked to synaptic dysfunction and neuronal atrophy in animal models. Conclusions: The findings highlight cerebellar involvement in DCD and ASD, medial temporal lobe contribution to ASD and executive dysfunction, and DDIT4 as a possible molecular signature of KMT5B loss-of-function. An integrative multimodal approach refined genotype\u2013phenotype correlations and revealed novel brain regions and pathways implicated in KMT5B-related disorders.<\/jats:p>","DOI":"10.3390\/genes16101174","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T10:35:36Z","timestamp":1760006136000},"page":"1174","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3795-1972","authenticated-orcid":false,"given":"Davide","family":"Politano","sequence":"first","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy"},{"name":"Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Borgatti","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy"},{"name":"Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Borgonovi","sequence":"additional","affiliation":[{"name":"Unit of Genetics, Clinical Biochemistry, University Hospital \u201cMaggiore della Carit\u00e0\u201d, 28100 Novara, Italy"},{"name":"Department of Health Sciences, Universit\u00e0 del Piemonte Orientale, 28100 Novara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8024-8425","authenticated-orcid":false,"given":"Angelina","family":"Cistaro","sequence":"additional","affiliation":[{"name":"AIMN Pediatric Study Group, 20146 Milan, Italy"},{"name":"Nuclear Medicine Division, Salus Alliance Medical, 16151 Genoa, Italy"},{"name":"A.B.C. Associazione Bambini Cri du Chat Scientific Committee, 50126 Firenze, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8400-5671","authenticated-orcid":false,"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[{"name":"A.B.C. Associazione Bambini Cri du Chat Scientific Committee, 50126 Firenze, Italy"},{"name":"Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piercarlo","family":"Fania","sequence":"additional","affiliation":[{"name":"Independent Researcher, 10100 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaia","family":"Garghetti","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Guala","sequence":"additional","affiliation":[{"name":"A.B.C. Associazione Bambini Cri du Chat Scientific Committee, 50126 Firenze, Italy"},{"name":"SOC Pediatria, Ospedale Castelli, Verbania, 28922 Verbania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Orlando","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy"},{"name":"Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene Giovanna","family":"Schiera","sequence":"additional","affiliation":[{"name":"A.B.C. Associazione Bambini Cri du Chat Scientific Committee, 50126 Firenze, Italy"},{"name":"Independent Researcher, 90145 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5790-1833","authenticated-orcid":false,"given":"Claudia","family":"Scotti","sequence":"additional","affiliation":[{"name":"Unit of Immunology and General Pathology, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4598-2023","authenticated-orcid":false,"given":"Fabio","family":"Sirchia","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"},{"name":"Medical Genetics Unit, IRCCS San Matteo Foundation, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Romaniello","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaia","family":"Visani","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"},{"name":"Medical Genetics Unit, IRCCS San Matteo Foundation, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Vurchio","sequence":"additional","affiliation":[{"name":"Unit of Genetics, Clinical Biochemistry, University Hospital \u201cMaggiore della Carit\u00e0\u201d, 28100 Novara, Italy"},{"name":"Department of Health Sciences, Universit\u00e0 del Piemonte Orientale, 28100 Novara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Mellone","sequence":"additional","affiliation":[{"name":"Unit of Genetics, Clinical Biochemistry, University Hospital \u201cMaggiore della Carit\u00e0\u201d, 28100 Novara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6686-4600","authenticated-orcid":false,"given":"Mara","family":"Giordano","sequence":"additional","affiliation":[{"name":"Unit of Genetics, Clinical Biochemistry, University Hospital \u201cMaggiore della Carit\u00e0\u201d, 28100 Novara, Italy"},{"name":"Department of Health Sciences, Universit\u00e0 del Piemonte Orientale, 28100 Novara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/ng.3792","article-title":"Targeted Sequencing Identifies 91 Neurodevelopmental-Disorder Risk Genes with Autism and Developmental-Disability Biases","volume":"49","author":"Stessman","year":"2017","journal-title":"Nat. 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