{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:09:04Z","timestamp":1790370544605,"version":"4.1.0"},"reference-count":96,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T00:00:00Z","timestamp":1750118400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union-NextGenerationEU"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside segregation analyses of their families. A targeted panel of genes was chosen and analyzed for each case, based on a detailed examination of clinical data. Gene analyses revealed that specific variants concern key neurobiological processes involving neuronal architecture, development, and function. These variants occur in a number of genes, including SHANK3, DLG3, NALCN, and PACS2 which are critical for synaptic signaling imbalance, CEP120 and BBS5 for ciliopathies, SPTAN1 for spectrins structure, SPATA5, TRAK1, and VPS13B for neuronal organelles trafficking and integrity, TAF6, SMARCB1, DDX3X, MECP2, and SETD1A for gene expression, CDK13 for cell cycle control, ALDH5A1, DPYD, FH, and PDHX for mitochondrial function, and PQBP1, HUWE1, and WDR45 for neuron homeostasis. Novel single nucleotide variants in the SPATA5, CEP120, BBS5, SETD1A, TRAK1, VPS13B, and DDX3X genes have been identified and proposed for use in ASD diagnostics. Our data contribute to a better understanding of the complex neurobiological features of autism and are applicable in the diagnosis and development of personalized therapeutic approaches.<\/jats:p>","DOI":"10.3390\/cells14120915","type":"journal-article","created":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T11:53:14Z","timestamp":1750161194000},"page":"915","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3613-548X","authenticated-orcid":false,"given":"Lyudmila","family":"Belenska-Todorova","sequence":"first","affiliation":[{"name":"Department of Biology, Medical Genetics and Microbiology, Faculty of Medicine, Sofia University \u201cSt. Kliment Ohridski\u201d, 1000 Sofia, Bulgaria"},{"name":"Center with an Autism Research Laboratory, Faculty of Educational Studies and Arts, Sofia University \u201cSt. Kliment Ohridski\u201d, 1000 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milen","family":"Zamfirov","sequence":"additional","affiliation":[{"name":"Center with an Autism Research Laboratory, Faculty of Educational Studies and Arts, Sofia University \u201cSt. Kliment Ohridski\u201d, 1000 Sofia, Bulgaria"},{"name":"Department of Special Pedagogy and Speech Therapy, Faculty of Educational Sciences and Arts, Sofia University \u201cSt. Kliment Ohridski\u201d, 1000 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tihomir","family":"Todorov","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1000 Sofia, Bulgaria"},{"name":"Independent Medico-Diagnostic Laboratory Genome Center \u201cBulgaria\u201d, 1000 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Slavena","family":"Atemin","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1000 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mila","family":"Sleptsova","sequence":"additional","affiliation":[{"name":"Independent Medico-Diagnostic Laboratory Genome Center \u201cBulgaria\u201d, 1000 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zornitsa","family":"Pavlova","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1000 Sofia, Bulgaria"},{"name":"Independent Medico-Diagnostic Laboratory Genome Center \u201cBulgaria\u201d, 1000 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7030-4216","authenticated-orcid":false,"given":"Tanya","family":"Kadiyska","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1000 Sofia, Bulgaria"},{"name":"Department of Physiology and Pathophysiology, Medical University of Sofia, 1000 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ales","family":"Maver","sequence":"additional","affiliation":[{"name":"Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7824-4978","authenticated-orcid":false,"given":"Borut","family":"Peterlin","sequence":"additional","affiliation":[{"name":"Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albena","family":"Todorova","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1000 Sofia, Bulgaria"},{"name":"Independent Medico-Diagnostic Laboratory Genome Center \u201cBulgaria\u201d, 1000 Sofia, Bulgaria"},{"name":"Department of Medical Chemistry and Biochemistry, Medical University of Sofia, 1000 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1001\/jama.2022.23661","article-title":"Autism Spectrum Disorder: A Review","volume":"329","author":"Hirota","year":"2023","journal-title":"JAMA"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"S55","DOI":"10.21037\/tp.2019.09.09","article-title":"Autism spectrum disorder: Definition, epidemiology, causes, and clinical evaluation","volume":"9","author":"Hodges","year":"2020","journal-title":"Transl. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/s41572-019-0138-4","article-title":"Autism spectrum disorder","volume":"6","author":"Lord","year":"2020","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Genovese, A., and Butler, M.G. (2023). The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations. Genes, 14.","DOI":"10.3390\/genes14030677"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association (2022). Diagnostic and Statistical Manual of Mental Disorders, American Psychiatric Association.","DOI":"10.1176\/appi.books.9780890425787"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"e20192005","DOI":"10.1542\/peds.2019-2005","article-title":"Increasing Prevalence of Developmental Disabilities Among Children in the US: A Sign of Progress?","volume":"144","author":"Durkin","year":"2019","journal-title":"Pediatrics"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Casanova, M.F., Casanova, E.L., Frye, R.E., Baeza-Velasco, C., LaSalle, J.M., Hagerman, R.J., Scherer, S.W., and Natowicz, M.R. (2020). Editorial: Secondary vs. Idiopathic Autism. Front. Psychiatry, 11.","DOI":"10.3389\/fpsyt.2020.00297"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Horecka-Lewitowicz, A., Lewitowicz, W., Wawszczak-Kasza, M., Lim, H., and Lewitowicz, P. (2024). Autism Spectrum Disorder Pathogenesis-A Cross-Sectional Literature Review Emphasizing Molecular Aspects. Int. J. Mol. Sci., 25.","DOI":"10.20944\/preprints202409.1776.v1"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.1017\/S0033291721000192","article-title":"Genetic contributions to autism spectrum disorder","volume":"51","author":"Havdahl","year":"2021","journal-title":"Psychol. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.braindev.2006.09.003","article-title":"Childhood autism and associated comorbidities","volume":"29","author":"Zafeiriou","year":"2007","journal-title":"Brain Dev."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Weuring, W., Geerligs, J., and Koeleman, B.P.C. (2021). Gene Therapies for Monogenic Autism Spectrum Disorders. Genes, 12.","DOI":"10.3390\/genes12111667"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1038\/nn.4420","article-title":"Lessons learned from studying syndromic autism spectrum disorders","volume":"19","author":"Sztainberg","year":"2016","journal-title":"Nat. Neurosci."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1111\/j.1365-2788.2009.01197.x","article-title":"Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider autism spectrum disorder population","volume":"53","author":"Moss","year":"2009","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"The Deciphering Developmental Disorders Study (2015). Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519, 223\u2013228.","DOI":"10.1038\/nature14135"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"5256","DOI":"10.1007\/s12035-023-03405-9","article-title":"A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder","volume":"60","author":"Pourtavakoli","year":"2023","journal-title":"Mol. Neurobiol."},{"key":"ref_16","unstructured":"Wright, A.F. (2001). Genetic Variation: Polymorphisms and Mutations. eLS."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Kereszturi, E. (2023). Diversity and Classification of Genetic Variations in Autism Spectrum Disorder. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms242316768"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/s13229-020-00407-5","article-title":"Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank","volume":"12","author":"Yap","year":"2021","journal-title":"Mol. Autism"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.ibneur.2023.03.011","article-title":"Correlation of mutated gene and signalling pathways in ASD","volume":"14","author":"Apte","year":"2023","journal-title":"IBRO Neurosci. Rep."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1038\/s41398-022-02009-6","article-title":"Genetics of autism spectrum disorder: An umbrella review of systematic reviews and meta-analyses","volume":"12","author":"Qiu","year":"2022","journal-title":"Transl. Psychiatry"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/978-3-030-30402-7_2","article-title":"New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder","volume":"24","author":"Alsharshani","year":"2020","journal-title":"Adv. Neurobiol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/j.pnpbp.2019.02.012","article-title":"Copy number variants in autism spectrum disorders","volume":"92","author":"Vicari","year":"2019","journal-title":"Prog. Neuropsychopharmacol. Biol. Psychiatry"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.cell.2019.12.036","article-title":"Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism","volume":"180","author":"Satterstrom","year":"2020","journal-title":"Cell"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/s41576-020-0231-2","article-title":"A framework for an evidence-based gene list relevant to autism spectrum disorder","volume":"21","author":"Schaaf","year":"2020","journal-title":"Nat. Rev. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/s41525-024-00411-1","article-title":"Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates","volume":"9","author":"Viggiano","year":"2024","journal-title":"NPJ Genom. Med."},{"key":"ref_27","first-page":"92737","article-title":"Metabolomic changes in children with autism","volume":"13","author":"Saeed","year":"2024","journal-title":"World J. Clin. Pediatr."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ajhg.2015.05.008","article-title":"Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation","volume":"97","author":"Bo","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/BF02172145","article-title":"Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders","volume":"24","author":"Lord","year":"1994","journal-title":"J. Autism Dev. Disord."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1023\/A:1005592401947","article-title":"The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism","volume":"30","author":"Lord","year":"2000","journal-title":"J. Autism Dev. Disord."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/s10803-013-1913-9","article-title":"Gender and age differences in the core triad of impairments in autism spectrum disorders: A systematic review and meta-analysis","volume":"44","author":"Groen","year":"2014","journal-title":"J. Autism Dev. Disord."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/s41586-020-2570-8","article-title":"Structure of the human sodium leak channel NALCN","volume":"587","author":"Kschonsak","year":"2020","journal-title":"Nature."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1038\/s41421-022-00392-4","article-title":"Architecture of the human NALCN channelosome","volume":"8","author":"Zhou","year":"2022","journal-title":"Cell Discov."},{"key":"ref_34","first-page":"132","article-title":"The sodium leak channel, NALCN, in health and disease","volume":"8","author":"Lory","year":"2014","journal-title":"Front Cell Neurosci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1038\/sj.emboj.7600566","article-title":"Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation","volume":"24","author":"Kottgen","year":"2005","journal-title":"EMBO J."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/j.ajhg.2018.03.005","article-title":"A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis","volume":"102","author":"Olson","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1007\/s12519-022-00652-z","article-title":"PACS gene family-related neurological diseases: Limited genotypes and diverse phenotypes","volume":"20","author":"Zhang","year":"2024","journal-title":"World J. Pediatr."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1242\/jcs.113.11.1851","article-title":"The Shank family of scaffold proteins","volume":"113","author":"Sheng","year":"2000","journal-title":"J. Cell Sci."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.braindev.2012.05.013","article-title":"SHANK3 as an autism spectrum disorder-associated gene","volume":"35","author":"Uchino","year":"2013","journal-title":"Brain Dev."},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Nemirovsky, S.I., Cordoba, M., Zaiat, J.J., Completa, S.P., Vega, P.A., Gonzalez-Moron, D., Medina, N.M., Fabbro, M., Romero, S., and Brun, B. (2015). Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0116358"},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Huang, G., Chen, S., Chen, X., Zheng, J., Xu, Z., Doostparast Torshizi, A., Gong, S., Chen, Q., Ma, X., and Yu, J. (2019). Uncovering the Functional Link Between SHANK3 Deletions and Deficiency in Neurodevelopment Using iPSC-Derived Human Neurons. Front. Neuroanat., 13.","DOI":"10.3389\/fnana.2019.00023"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s13229-024-00595-4","article-title":"Shank3 deficiency elicits autistic-like behaviors by activating p38alpha in hypothalamic AgRP neurons","volume":"15","author":"Wu","year":"2024","journal-title":"Mol. Autism"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"2673","DOI":"10.1523\/JNEUROSCI.4457-06.2007","article-title":"Synapse-associated protein 102\/dlgh3 couples the NMDA receptor to specific plasticity pathways and learning strategies","volume":"27","author":"Cuthbert","year":"2007","journal-title":"J. Neurosci."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.neubiorev.2020.09.017","article-title":"The neuroligins and the synaptic pathway in Autism Spectrum Disorder","volume":"119","author":"Trobiani","year":"2020","journal-title":"Neurosci. Biobehav. Rev."},{"key":"ref_45","unstructured":"Sergi, C., and Parayil Sankaran, B. (2024). Succinic Semialdehyde Dehydrogenase Deficiency, StatPearls."},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Didiasova, M., Banning, A., Brennenstuhl, H., Jung-Klawitter, S., Cinquemani, C., Opladen, T., and Tikkanen, R. (2020). Succinic Semialdehyde Dehydrogenase Deficiency: An Update. Cells, 9.","DOI":"10.20944\/preprints202001.0315.v1"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1002\/jimd.12723","article-title":"The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency","volume":"47","author":"Olivella","year":"2024","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1111\/dmcn.15671","article-title":"Succinic semialdehyde dehydrogenase deficiency: A model of neurocircuit imbalances in autism and potential insight into new biomarkers","volume":"65","author":"Frye","year":"2023","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1007\/s12098-015-2003-0","article-title":"Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder","volume":"83","author":"Gogou","year":"2016","journal-title":"Indian J. Pediatr."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.7150\/thno.14158","article-title":"Dihydropyrimidine Dehydrogenase Is a Prognostic Marker for Mesenchymal Stem Cell-Mediated Cytosine Deaminase Gene and 5-Fluorocytosine Prodrug Therapy for the Treatment of Recurrent Gliomas","volume":"6","author":"Chung","year":"2016","journal-title":"Theranostics"},{"key":"ref_51","first-page":"65","article-title":"Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1","volume":"45","author":"Meijer","year":"2019","journal-title":"JIMD Rep."},{"key":"ref_52","first-page":"49","article-title":"Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?","volume":"37","author":"Fleger","year":"2017","journal-title":"JIMD Rep."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/j.1399-0004.2010.01578.x","article-title":"Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder","volume":"80","author":"Carter","year":"2011","journal-title":"Clin. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1002\/1531-8249(200005)47:5<583::AID-ANA5>3.0.CO;2-Y","article-title":"Fumaric aciduria: Clinical and imaging features","volume":"47","author":"Kerrigan","year":"2000","journal-title":"Ann. Neurol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.ymgme.2012.03.017","article-title":"The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients","volume":"106","author":"Patel","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.eplepsyres.2015.07.002","article-title":"Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency\u2014An overview","volume":"116","author":"Bhandary","year":"2015","journal-title":"Epilepsy Res."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1042\/bj1480017","article-title":"Decreased synthesis of acetylcholine accompanying impaired oxidation of pyruvic acid in rat brain minces","volume":"148","author":"Gibson","year":"1975","journal-title":"Biochem. J."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1111\/cge.13711","article-title":"The third family with TAF6-related phenotype: Alazami-Yuan syndrome","volume":"97","author":"Tuc","year":"2020","journal-title":"Clin. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Selicorni, A., Mariani, M., Lettieri, A., and Massa, V. (2021). Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum. Genes, 12.","DOI":"10.3390\/genes12071075"},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Vuu, Y.M., Roberts, C.T., and Rastegar, M. (2023). MeCP2 Is an Epigenetic Factor That Links DNA Methylation with Brain Metabolism. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24044218"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.1016\/j.neuron.2024.04.007","article-title":"MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons","volume":"112","author":"Liu","year":"2024","journal-title":"Neuron"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"415825","DOI":"10.1155\/2012\/415825","article-title":"Linking epigenetics to human disease and Rett syndrome: The emerging novel and challenging concepts in MeCP2 research","volume":"2012","author":"Zachariah","year":"2012","journal-title":"Neural Plast."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"2014","DOI":"10.1038\/s41467-019-10022-5","article-title":"Inhibition of MYC by the SMARCB1 tumor suppressor","volume":"10","author":"Weissmiller","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/nrm.2017.26","article-title":"Mechanisms of action and regulation of ATP-dependent chromatin-remodelling complexes","volume":"18","author":"Clapier","year":"2017","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1086\/505693","article-title":"Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome","volume":"79","author":"Kleefstra","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.celrep.2019.12.002","article-title":"Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype","volume":"30","author":"Frega","year":"2020","journal-title":"Cell Rep."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s12943-021-01325-7","article-title":"DDX3X: Structure, physiologic functions and cancer","volume":"20","author":"Mo","year":"2021","journal-title":"Mol. Cancer"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1261\/rna.078926.121","article-title":"DDX3X and DDX3Y are redundant in protein synthesis","volume":"27","author":"Venkataramanan","year":"2021","journal-title":"RNA"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1002\/ajmg.a.61061","article-title":"De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability","volume":"179","author":"Nicola","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"310","DOI":"10.4161\/trns.21911","article-title":"Histone H3 lysine 4 methylation revisited","volume":"3","author":"Kusch","year":"2012","journal-title":"Transcription"},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Wang, S., Bleeck, A., Nadif Kasri, N., Kleefstra, T., van Rhijn, J.R., and Schubert, D. (2021). SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders. Front. Mol. Neurosci., 14.","DOI":"10.3389\/fnmol.2021.772000"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1007\/s12264-019-00400-w","article-title":"De Novo and Inherited SETD1A Variants in Early-onset Epilepsy","volume":"35","author":"Yu","year":"2019","journal-title":"Neurosci. Bull."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/nn.4524","article-title":"Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder","volume":"20","author":"Merico","year":"2017","journal-title":"Nat. Neurosci."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1038\/ncb1109-1275","article-title":"Cyclin-dependent kinases: A family portrait","volume":"11","author":"Malumbres","year":"2009","journal-title":"Nat. Cell Biol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.expneurol.2014.06.024","article-title":"Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression","volume":"261","author":"Chen","year":"2014","journal-title":"Exp. Neurol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1038\/ng.3627","article-title":"Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing","volume":"48","author":"Sifrim","year":"2016","journal-title":"Nat. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s13073-017-0463-8","article-title":"Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders","volume":"9","author":"Bostwick","year":"2017","journal-title":"Genome Med."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1101\/gad.348636.121","article-title":"CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum","volume":"35","author":"Chang","year":"2021","journal-title":"Genes Dev."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"110686","DOI":"10.1016\/j.celrep.2022.110686","article-title":"Centrosome-dependent microtubule modifications set the conditions for axon formation","volume":"39","author":"Meka","year":"2022","journal-title":"Cell Rep."},{"key":"ref_80","doi-asserted-by":"crossref","unstructured":"Karam, A., Delvallee, C., Estrada-Cuzcano, A., Geoffroy, V., Lamouche, J.B., Leuvrey, A.S., Nourisson, E., Tarabeux, J., Stoetzel, C., and Scheidecker, S. (2023). WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24108729"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1042\/EBC20180030","article-title":"Trafficking of ciliary membrane proteins by the intraflagellar transport\/BBSome machinery","volume":"62","author":"Wingfield","year":"2018","journal-title":"Essays Biochem."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet-Biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1038\/s41436-020-0761-1","article-title":"The morbid genome of ciliopathies: An update","volume":"22","author":"Shamseldin","year":"2020","journal-title":"Genet. Med."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/s41583-022-00674-6","article-title":"Spectrins: Molecular organizers and targets of neurological disorders","volume":"24","author":"Lorenzo","year":"2023","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/cm.21602","article-title":"Cargo hold and delivery: Ankyrins, spectrins, and their functional patterning of neurons","volume":"77","author":"Lorenzo","year":"2020","journal-title":"Cytoskeleton (Hoboken)"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1038\/sj.onc.1203442","article-title":"SPAF, a new AAA-protein specific to early spermatogenesis and malignant conversion","volume":"19","author":"Liu","year":"2000","journal-title":"Oncogene"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/s41431-017-0001-6","article-title":"Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency","volume":"26","author":"Puusepp","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.ajhg.2015.07.014","article-title":"Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss","volume":"97","author":"Tanaka","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_89","first-page":"19","article-title":"Clinical Presentation and Genetic Correlations in Bulgarian Patients with SPATA5 Gene Mutations","volume":"11","author":"Stancheva","year":"2021","journal-title":"Rare Dis. Orphan Drugs"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.neuron.2012.11.027","article-title":"TRAK\/Milton motor-adaptor proteins steer mitochondrial trafficking to axons and dendrites","volume":"77","author":"Mikhaylova","year":"2013","journal-title":"Neuron"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"37665","DOI":"10.1074\/jbc.M111.267971","article-title":"Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity","volume":"286","author":"Seifert","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_92","doi-asserted-by":"crossref","unstructured":"Tanaka, H., and Okazawa, H. (2022). PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23116227"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1080\/15548627.2019.1630224","article-title":"WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death","volume":"16","author":"Wan","year":"2020","journal-title":"Autophagy"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.devcel.2009.07.009","article-title":"The N-Myc-DLL3 cascade is suppressed by the ubiquitin ligase Huwe1 to inhibit proliferation and promote neurogenesis in the developing brain","volume":"17","author":"Zhao","year":"2009","journal-title":"Dev. Cell"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"3377","DOI":"10.1007\/s10803-015-2519-1","article-title":"Brief Report: Systematic Review of Rett Syndrome in Males","volume":"45","author":"Reichow","year":"2015","journal-title":"J. Autism Dev. Disord."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s13229-017-0157-5","article-title":"Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation","volume":"8","author":"Wen","year":"2017","journal-title":"Mol. Autism"}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/14\/12\/915\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:53:49Z","timestamp":1760032429000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/14\/12\/915"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,17]]},"references-count":96,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["cells14120915"],"URL":"https:\/\/doi.org\/10.3390\/cells14120915","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,17]]}}}