{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T20:06:32Z","timestamp":1790280392095,"version":"4.1.0"},"reference-count":68,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T00:00:00Z","timestamp":1757376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Twin and family studies suggest that 90% of the risk for autism spectrum disorder (ASD) is due to genetic factors, with 800 genes recognized as playing a role. An important gene is phosphatase and tensin homolog (PTEN), which plays a significant role in cancer as a tumor suppressor best known for causing overgrowth and PTEN hamartoma tumor syndromes (PHTS). Less well known are PTEN germline mutations with adverse neurodevelopmental impacts of macrocephaly, intellectual disability, and ASD, as well as other behavioral and psychiatric disturbances. There remains a limited understanding of whether these gene variants are associated with differing manifestations of PTEN-associated neurodevelopmental disorders. Methods: This review utilized comprehensive literature searches such as PubMed, OMIM, and Gene Reviews with keywords of PTEN, genetic factors, autism, and human studies and by searching genomic-protein functional networks with STRING computer-based programs for functional and genetic mechanisms. Results: This review explored the genetic underpinnings of PTEN gene variants causing altered interactive proteins and their mechanisms, biological processes, molecular functions, pathways, and disease\u2013gene associations. We characterized specific gene\u2013gene or protein\u2013protein interactions and their functions relating to neurodevelopment, psychiatric disorders, and ASD that were found to be increased with PTEN gene variants. Conclusions: PTEN gene defects are among the most recognized genetic causes of ASD. PTEN gene variants and altered protein interactions and mechanisms described in our study are associated with an increased risk for tissue and organ overgrowth, macrocephaly, and distinct brain anomalies, specifically newly identified abnormal CSF dynamics. These genetic underpinnings and impacts on neurodevelopment are discussed. The genetic and protein findings identified may offer clues to effective treatment interventions, particularly when instituted at a young age, to improve long-term outcomes.<\/jats:p>","DOI":"10.3390\/genes16091061","type":"journal-article","created":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T19:16:17Z","timestamp":1757445377000},"page":"1061","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["PTEN Gene and Autism: Genetic Underpinnings and Neurodevelopmental Impacts"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3612-0405","authenticated-orcid":false,"given":"Ann C.","family":"Genovese","sequence":"first","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2911-0524","authenticated-orcid":false,"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders, American Psychiatric Association. [5th ed.].","DOI":"10.1176\/appi.books.9780890425596"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1542\/peds.2007-2361","article-title":"Identification and Evaluation of Children with Autism Spectrum Disorders","volume":"120","author":"Johnson","year":"2007","journal-title":"Pediatrics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.yebeh.2009.09.023","article-title":"Update on Autism: A Review of 1300 Reports Published in 2008","volume":"16","author":"Hughes","year":"2009","journal-title":"Epilepsy Behav."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1023\/A:1025014929212","article-title":"Validation of a Brief Quantitative Measure of Autistic Traits: Comparison of the Social Responsiveness Scale with the Autism Diagnostic Interview-Revised","volume":"33","author":"Constantino","year":"2003","journal-title":"J. Autism Dev. Disord."},{"key":"ref_5","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_6","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_7","first-page":"3","article-title":"Epidemiology of Autistic Disorder and Other Pervasive Developmental Disorders","volume":"66","author":"Fombonne","year":"2005","journal-title":"J. Clin. Psychiatry"},{"key":"ref_8","first-page":"1","article-title":"Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years\u2013Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014","volume":"67","author":"Baio","year":"2018","journal-title":"Morb. Mortal. Wkly. Rep. Surveill. Summ."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.conb.2007.01.009","article-title":"Autism Spectrum Disorders: Developmental Disconnection Syndromes","volume":"17","author":"Geschwind","year":"2007","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/S1071-9091(95)80007-7","article-title":"Autistic Regression and Disintegrative Disorder: How Important the Role of Epilepsy?","volume":"2","author":"Rapin","year":"1995","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/ana.410160302","article-title":"Neuroepidemiology","volume":"16","author":"Kurtzke","year":"1984","journal-title":"Ann. Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"S83","DOI":"10.2223\/1172","article-title":"Autism and pervasive developmental disorders","volume":"80","author":"Gadia","year":"2004","journal-title":"J. Pediatr."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Genovese, A.C., and Butler, M.G. (2024). Behavioral and Psychiatric Disorders in Syndromic Autism. Brain Sci., 14.","DOI":"10.3390\/brainsci14040343"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"6464","DOI":"10.3390\/ijms16036464","article-title":"High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders","volume":"16","author":"Butler","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Ho, K.S., Wassman, E.R., Baxter, A.L., Hensel, C.H., Martin, M.M., Prasad, A., Twede, H., Vanzo, R.J., and Butler, M.G. (2016). Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. Int. J. Mol. Sci., 17.","DOI":"10.3390\/ijms17122070"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmg.2004.024646","article-title":"Subset of Individuals with Autism Spectrum Disorders and Extreme Macrocephaly Associated with Germline PTEN Tumour Suppressor Gene Mutations","volume":"42","author":"Butler","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/jnci\/djt277","article-title":"Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria","volume":"105","author":"Pilarski","year":"2013","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"dju130","DOI":"10.1093\/jnci\/dju130","article-title":"RE: Cowden Syndrome and PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria","volume":"106","author":"Tan","year":"2014","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1093\/hmg\/ddm053","article-title":"Comparative Genomic and Functional Analyses Reveal a Novel Cis-Acting PTEN Regulatory Element as a Highly Conserved Functional E-Box Motif Deleted in Cowden Syndrome","volume":"16","author":"Pezzolesi","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1194\/jlr.R071712","article-title":"A Short History of Inositol Lipids","volume":"57","author":"Irvine","year":"2016","journal-title":"J. Lipid Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1042\/EBC20200041","article-title":"Phosphatidylinositol (4, 5) bisphosphate: Diverse Functions at the Plasma Membrane","volume":"64","author":"Katan","year":"2020","journal-title":"Essays Biochem."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/humu.10257","article-title":"PTEN: One Gene, Many Syndromes","volume":"22","author":"Eng","year":"2003","journal-title":"Hum. Mutat."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1136\/jmg-2024-110470","article-title":"Six at Sixty. Commentary on Identification of the PTEN Gene as a Major Contributor to Autism Spectrum Disorder","volume":"62","author":"Butler","year":"2024","journal-title":"J. Med. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1038\/s41593-024-01865-3","article-title":"PTEN Mutations Impair CSF Dynamics and Cortical Networks by Dysregulating Periventricular Neural Progenitors","volume":"28","author":"DeSpenza","year":"2025","journal-title":"Nat. Neurosci."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.neuron.2021.12.009","article-title":"Brain Ventricles as Windows into Brain Development and Disease","volume":"110","author":"Duy","year":"2022","journal-title":"Neuron"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1038\/s41591-020-1090-2","article-title":"Exome Sequencing Implicates Genetic Disruption of Prenatal Neuro-Gliogenesis in Sporadic Congenital Hydrocephalus","volume":"26","author":"Jin","year":"2020","journal-title":"Nat. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1186\/s13229-017-0182-4","article-title":"Identification of Mutations in the PI3K-AKT-mTOR Signalling Pathway in Patients with Macrocephaly and Developmental Delay and\/or Autism","volume":"8","author":"Yeung","year":"2017","journal-title":"Mol. Autism"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1093\/brain\/awae306","article-title":"PTEN Controls Alternative Splicing of Autism Spectrum Disorder-Associated Transcripts in Primary Neurons","volume":"148","author":"Rademacher","year":"2025","journal-title":"Brain"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/uog.4026","article-title":"Reference Ranges for Fetal Ventricular Width: A Non-Normal Approach","volume":"30","author":"Salomon","year":"2007","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1086\/340026","article-title":"Protean PTEN: Form and Function","volume":"70","author":"Waite","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"3589","DOI":"10.1242\/jcs.051011","article-title":"mTOR Signaling at a Glance","volume":"122","author":"Laplante","year":"2009","journal-title":"J. Cell Sci."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/aur.1266","article-title":"Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism","volume":"6","author":"Klein","year":"2013","journal-title":"Autism Res."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1510-e1265","DOI":"10.1634\/theoncologist.2019-0514","article-title":"A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN","volume":"24","author":"Komiya","year":"2019","journal-title":"Oncologist"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1016\/j.jpeds.2013.12.053","article-title":"Mammalian Target of Rapamycin Inhibitors for Intractable Epilepsy and Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex","volume":"164","author":"Cardamone","year":"2014","journal-title":"J. Pediatr."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.braindev.2018.07.003","article-title":"Everolimus for Epilepsy and Autism Spectrum Disorder in Tuberous Sclerosis Complex: EXIST-3 Substudy in Japan","volume":"41","author":"Mizuguchi","year":"2019","journal-title":"Brain Dev."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"2153","DOI":"10.1016\/S0140-6736(16)31419-2","article-title":"Adjunctive Everolimus Therapy for Treatment-Resistant Focal-Onset Seizures Associated with Tuberous Sclerosis (EXIST-3): A Phase 3, Randomised, Double-Blind, Placebo-Controlled Study","volume":"388","author":"French","year":"2016","journal-title":"Lancet"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"100733","DOI":"10.1016\/j.conctc.2021.100733","article-title":"A Randomized Double-Blind Controlled Trial of Everolimus in Individuals with PTEN Mutations: Study Design and Statistical Considerations","volume":"21","author":"Hardan","year":"2021","journal-title":"Contemp. Clin. Trials Commun."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Veatch, O.J., Butler, M.G., Elsea, S.H., Malow, B.A., Sutcliffe, J.S., and Moore, J.H. (2020). An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21239029"},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Gabrielli, A.P., Manzardo, A.M., and Butler, M.G. (2019). GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20051166"},{"key":"ref_40","first-page":"10","article-title":"PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review","volume":"33","author":"Zahedi","year":"2019","journal-title":"Med. J. Islam. Repub. Iran."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"336","DOI":"10.5114\/ms.2022.122392","article-title":"PTEN gene mutations in malignant tumours-systematic review and clinical implications for tumour treatment","volume":"38","author":"Kolomanska","year":"2022","journal-title":"Medical Studies"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"a036780","DOI":"10.1101\/cshperspect.a036780","article-title":"PTEN in Autism and Neurodevelopmental Disorders","volume":"9","author":"Rademacher","year":"2019","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_43","first-page":"60","article-title":"The Role of PTEN in Neurodevelopment","volume":"5","author":"Skelton","year":"2020","journal-title":"Mol. Neuropsychiatry"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1038\/mp.2014.125","article-title":"Molecular and Phenotypic Abnormalities in Individuals with Germline Heterozygous PTEN Mutations and Autism","volume":"20","author":"Frazier","year":"2015","journal-title":"Mol. Psychiatry"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"3212","DOI":"10.1093\/hmg\/ddu031","article-title":"Germline Disruption of Pten Localization Causes Enhanced Sex-Dependent Social Motivation and Increased Glial Production","volume":"23","author":"Tilot","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1038\/ejhg.2011.20","article-title":"Analysis of Prevalence and Degree of Macrocephaly in Patients with Germline PTEN Mutations and of Brain Weight in Pten Knock-in Murine Model","volume":"19","author":"Mester","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1136\/jmg.2011.088807","article-title":"Predicting PTEN Mutations: An Evaluation of Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome Clinical Features","volume":"48","author":"Pilarski","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/s41398-019-0588-1","article-title":"Developmental Synaptopathies Consortium Neurobehavioral Phenotype of Autism Spectrum Disorder Associated with Germline Heterozygous Mutations in PTEN","volume":"9","author":"Busch","year":"2019","journal-title":"Transl. Psychiatry"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1002\/ajmg.b.30493","article-title":"Mutation Screening of the PTEN Gene in Patients with Autism Spectrum Disorders and Macrocephaly","volume":"144B","author":"Buxbaum","year":"2007","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1002\/aur.1884","article-title":"What Will My Child\u2019s Future Hold? Phenotypes of Intellectual Development in 2-8-Year-Olds with Autism Spectrum Disorder","volume":"11","author":"Solomon","year":"2018","journal-title":"Autism Res."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/nm.4071","article-title":"Advancing the Understanding of Autism Disease Mechanisms through Genetics","volume":"22","author":"Won","year":"2016","journal-title":"Nat. Med."},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Genovese, A., and Butler, M.G. (2020). Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD). Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21134726"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/s13229-015-0017-0","article-title":"Integrated Analysis of Whole-Exome Sequencing and Transcriptome Profiling in Males with Autism Spectrum Disorders","volume":"6","author":"Homs","year":"2015","journal-title":"Mol. Autism"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.tics.2011.07.003","article-title":"Genetics of Autism Spectrum Disorders","volume":"15","author":"Geschwind","year":"2011","journal-title":"Trends Cogn. Sci."},{"key":"ref_55","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_56","doi-asserted-by":"crossref","unstructured":"Magdalon, J., S\u00e1nchez-S\u00e1nchez, S.M., Griesi-Oliveira, K., and Serti\u00e9, A.L. (2017). Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder?. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18030659"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"353","DOI":"10.31887\/DCNS.2017.19.4\/sscherer","article-title":"Syndromic Autism Spectrum Disorders: Moving from a Clinically Defined to a Molecularly Defined Approach","volume":"19","author":"Fernandez","year":"2017","journal-title":"Dialogues Clin. Neurosci."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.pediatrneurol.2020.06.011","article-title":"Syndromic Autism Revisited: Review of the Literature and Lessons Learned","volume":"114","author":"Ziats","year":"2021","journal-title":"Pediatr. Neurol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s11689-021-09406-w","article-title":"Behavioural and Psychological Features of PTEN Mutations: A Systematic Review of the Literature and Meta-Analysis of the Prevalence of Autism Spectrum Disorder Characteristics","volume":"14","author":"Cummings","year":"2022","journal-title":"J. Neurodev. Disord."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1038\/gim.2013.1","article-title":"Cognitive Characteristics of PTEN Hamartoma Tumor Syndromes","volume":"15","author":"Busch","year":"2013","journal-title":"Genet. Med."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"e1920415","DOI":"10.1001\/jamanetworkopen.2019.20415","article-title":"Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations","volume":"3","author":"Yehia","year":"2020","journal-title":"JAMA Netw. Open"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1136\/jmedgenet-2016-104484","article-title":"A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children","volume":"54","author":"Beinkampen","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1111\/jir.13130","article-title":"Behavioural, Developmental and Psychological Characteristics in Children with Germline PTEN Mutations: A Carer Report Study","volume":"68","author":"Cummings","year":"2024","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1002\/ajmg.a.36309","article-title":"Characteristic Brain Magnetic Resonance Imaging Pattern in Patients with Macrocephaly and PTEN Mutations","volume":"164A","author":"Vanderver","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/ajmg.b.32610","article-title":"Broad Spectrum of Neuropsychiatric Phenotypes Associated with White Matter Disease in PTEN Hamartoma Tumor Syndrome","volume":"177","author":"Balci","year":"2018","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1002\/aur.1602","article-title":"Sensory Subtypes and Anxiety in Older Children and Adolescents with Autism Spectrum Disorder","volume":"9","author":"Lane","year":"2016","journal-title":"Autism Res."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Steele, M., Uljarevi\u0107, M., Rached, G., Frazier, T.W., Phillips, J.M., Libove, R.A., Busch, R.M., Klaas, P., Martinez-Agosto, J.A., and Srivastava, S. (2021). Psychiatric Characteristics Across Individuals With PTEN Mutations. Front. Psychiatry, 12.","DOI":"10.3389\/fpsyt.2021.672070"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s42399-022-01302-1","article-title":"Autism Spectrum Disorder: A Review of Behavioral and Psychiatric Challenges Across the Lifespan","volume":"4","author":"Genovese","year":"2022","journal-title":"SN Compr. Clin. Med."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/9\/1061\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:42:52Z","timestamp":1760035372000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/9\/1061"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,9]]},"references-count":68,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,9]]}},"alternative-id":["genes16091061"],"URL":"https:\/\/doi.org\/10.3390\/genes16091061","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,9]]}}}