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rare neurodevelopmental disorder recognized by the classical triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile epileptic spasms syndrome. The diagnostic criteria of AIC were revised in 2005 to include additional phenotypes that are frequently observed in this patient group. AIC has been traditionally considered as X-linked and male lethal because it almost exclusively affects females. Despite numerous genetic and genomic investigations on AIC, a unifying X-linked cause has not been identified. Here, we performed exome and genome sequencing of 10 females with AIC or suspected AIC based on current criteria. We identified a unique de novo variant, each in different genes: KMT2B, SLF1, SMARCB1, SZT2 and WNT8B, in five of these females. Notably, genomic analyses of coding and non-coding single nucleotide variants, short tandem repeats and structural variation highlighted a distinct lack of X-linked candidate genes. We assessed the likely pathogenicity of our candidate autosomal variants using the TOPflash assay for WNT8B and morpholino knockdown in zebrafish (Danio rerio) embryos for other candidates. We show expression of Wnt8b and Slf1 are restricted to clinically relevant cortical tissues during mouse development. Our findings suggest that AIC is genetically heterogeneous with implicated genes converging on molecular pathways central to cortical development.<\/jats:p>","DOI":"10.3390\/genes14081565","type":"journal-article","created":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T09:22:38Z","timestamp":1690795358000},"page":"1565","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Aicardi Syndrome Is a Genetically Heterogeneous Disorder"],"prefix":"10.3390","volume":"14","author":[{"given":"Thuong T.","family":"Ha","sequence":"first","affiliation":[{"name":"School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia"},{"name":"Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, SA 5000, 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Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6287-0819","authenticated-orcid":false,"given":"Simone A.","family":"Mandelstam","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia"},{"name":"Department of Medical Imaging, The Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison E.","family":"Gardner","sequence":"additional","affiliation":[{"name":"Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0101-9876","authenticated-orcid":false,"given":"Atma M.","family":"Ivancevic","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cellular, and Developmental Biology, College of Arts and Sciences, University of Colorado, Boulder, CO 80309, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duyen","family":"Pham","sequence":"additional","affiliation":[{"name":"Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7976-8386","authenticated-orcid":false,"given":"Raman","family":"Kumar","sequence":"additional","affiliation":[{"name":"Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Smith","sequence":"additional","affiliation":[{"name":"Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia"},{"name":"Department of Neurology, Women\u2019s and Children\u2019s Hospital, North Adelaide, SA 5006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chirag","family":"Patel","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland, Royal Brisbane and Women\u2019s Hospital, Herston, QLD 4029, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Malone","sequence":"additional","affiliation":[{"name":"Queensland Children\u2019s Hospital, South Brisbane, QLD 4101, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique M.","family":"Ryan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia"},{"name":"Department of Neurology, The Royal Children\u2019s Hospital, Parkville, VIC 3052, Australia"},{"name":"Murdoch Children\u2019s Research Institute, Parkville, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Calvert","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Queensland Children\u2019s Hospital, South Brisbane, QLD 4101, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0345-9944","authenticated-orcid":false,"given":"Clare L.","family":"van Eyk","sequence":"additional","affiliation":[{"name":"Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4289-444X","authenticated-orcid":false,"given":"Michael","family":"Lardelli","sequence":"additional","affiliation":[{"name":"Alzheimer\u2019s Disease Genetics Laboratory, School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4580-841X","authenticated-orcid":false,"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Leventer","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia"},{"name":"Department of Neurology, The Royal Children\u2019s Hospital, Parkville, VIC 3052, Australia"},{"name":"Murdoch Children\u2019s Research Institute, Parkville, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda J.","family":"Richards","sequence":"additional","affiliation":[{"name":"The Queensland Brain Institute, The School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, QLD 4000, Australia"},{"name":"Department of Neuroscience, School of Medicine, Washington University, St Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia"},{"name":"Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia"},{"name":"Department of Neurology, The Royal Children\u2019s Hospital, Parkville, VIC 3052, Australia"},{"name":"Murdoch Children\u2019s Research Institute, Parkville, VIC 3052, Australia"},{"name":"Florey Institute of Neuroscience and Mental Health, Parkville, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7884-6861","authenticated-orcid":false,"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[{"name":"School of Biological Sciences, Faculty of Science, University of Adelaide, Adelaide, SA 5005, Australia"},{"name":"Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia"},{"name":"South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9298-3072","authenticated-orcid":false,"given":"Mark A.","family":"Corbett","sequence":"additional","affiliation":[{"name":"Adelaide Medical School and Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1177\/0883073807309782","article-title":"New Incidence, Prevalence, and Survival of Aicardi Syndrome from 408 Cases","volume":"23","author":"Kroner","year":"2008","journal-title":"J. Child. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.braindev.2003.11.011","article-title":"Aicardi Syndrome","volume":"27","author":"Aicardi","year":"2005","journal-title":"Brain Dev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.jaapos.2012.01.008","article-title":"Ophthalmologic Findings in Aicardi Syndrome","volume":"16","author":"Fruhman","year":"2012","journal-title":"J. AAPOS"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e1319","DOI":"10.1212\/WNL.0000000000011237","article-title":"Basal Ganglia Dysmorphism in Patients with Aicardi Syndrome","volume":"96","author":"Masnada","year":"2021","journal-title":"Neurology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/S0022-3476(05)80649-3","article-title":"Heterogeneity of Clinical Severity and Molecular Lesions in Aicardi Syndrome","volume":"116","author":"Neidich","year":"1990","journal-title":"J. Pediatr."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1002\/ajmg.1320380115","article-title":"Aicardi Syndrome: Early Neuroradiological Manifestations and Results of DNA Studies in One Patient","volume":"38","author":"Nielsen","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s004390050534","article-title":"Evidence That Skewed X Inactivation Is Not Needed for the Phenotypic Expression of Aicardi Syndrome","volume":"100","author":"Hoag","year":"1997","journal-title":"Hum. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1016\/j.ejmg.2007.05.006","article-title":"Screening of Subtle Copy Number Changes in Aicardi Syndrome Patients with a High Resolution X Chromosome Array-CGH","volume":"50","author":"Yilmaz","year":"2007","journal-title":"Eur. J. Med. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s00439-008-0615-4","article-title":"Non-Random X Chromosome Inactivation in Aicardi Syndrome","volume":"125","author":"Eble","year":"2009","journal-title":"Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.jecm.2013.02.011","article-title":"Aicardi Syndrome without CDKL5 Gene Mutation","volume":"5","author":"Pai","year":"2013","journal-title":"J. Exp. Clin. Med."},{"key":"ref_11","first-page":"278","article-title":"The Aicardi Syndrome in a 47, XXY Male","volume":"15","author":"Hopkins","year":"1979","journal-title":"Aust. Paediatr. J."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.jns.2008.12.008","article-title":"Aicardi Syndrome in a 47, XXY Male Neonate with Lissencephaly and Holoprosencephaly","volume":"278","author":"Chen","year":"2009","journal-title":"J. Neurol. Sci."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1177\/0883073808322337","article-title":"A Male Phenotype with Aicardi Syndrome","volume":"24","author":"Zubairi","year":"2009","journal-title":"J. Child. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.ejpn.2014.03.004","article-title":"Aicardi Syndrome in a 47 XXY Male\u2014A Variable Developmental Phenotype?","volume":"18","author":"Shetty","year":"2014","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1007\/BF00276602","article-title":"Agenesis of Corpus Callosum, Ocular, and Skeletal Anomalies (X-Linked Dominant Aicardi\u2019s Syndrome) in a Girl with Balanced X\/3 Translocation","volume":"61","author":"Ropers","year":"1982","journal-title":"Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/S0387-7604(12)80002-7","article-title":"Multi-Institutional Survey of the Aicardi Syndrome in Japan","volume":"12","author":"Yamagata","year":"1990","journal-title":"Brain Dev."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.1320320405","article-title":"Clinical, Cytogenetic, and Pedigree Findings in 18 Cases of Aicardi Syndrome","volume":"32","author":"Donnenfeld","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1086\/375538","article-title":"Disruption of the Serine\/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation","volume":"72","author":"Kalscheuer","year":"2003","journal-title":"Am. J. Hum. 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