{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:48:06Z","timestamp":1782362886236,"version":"3.54.5"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"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:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate the genetic etiology of autism spectrum disorder with Intellectual Disability in the Northwest China.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      Whole-exome sequencing was conducted on 125 children admitted to Yinchuan First People's Hospital. Variants and associated pathogenic mechanisms were analyzed, as well as correlations between genotypes and clinical phenotypes. Forty-five positive cases were identified from 125 cases, yielding a positive detection rate of 36.0%, with a male-to-female ratio of 2:1. These included 8 cases with copy number variations and 37 cases of single-nucleotide variations\/insertions and deletions. Chi-squared tests and False Discovery Rate adjust showed significant differences in gross motor developmental delay and abnormal electroencephalograms between the positive group and part of the negative group (\n                      <jats:italic>q<\/jats:italic>\n                      \u2009&amp;lt;\u20090.05). Further, there was a significant difference in autism spectrum disorder severity between the positive and negative groups (\n                      <jats:italic>\u03c7<\/jats:italic>\n                      <jats:sup>2<\/jats:sup>\n                      \u2009=\u200910.20,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&amp;lt;\u20090.01).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study identified several pathogenic genes that have been rarely reported in the context of autism spectrum disorder. Patients with these genetic variants may present with more complex and severe clinical phenotypes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1829150","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:22:00Z","timestamp":1782361320000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic insights into autism spectrum disorder with intellectual disability: a regional population-based study from Northwest China"],"prefix":"10.3389","volume":"14","author":[{"given":"Yanrui","family":"Dai","sequence":"first","affiliation":[{"name":"Department of Pediatric Rehabilitation, The First People\u2019s Hospital of Yinchuan","place":["Yinchuan, China"]},{"name":"Second College of Clinical Medicine, Ningxia Medical University","place":["Yinchuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rehabilitation, The First People\u2019s Hospital of Yinchuan","place":["Yinchuan, China"]},{"name":"Second College of Clinical Medicine, Ningxia Medical University","place":["Yinchuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianju","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rehabilitation, The First People\u2019s Hospital of Yinchuan","place":["Yinchuan, China"]},{"name":"Second College of Clinical Medicine, Ningxia Medical University","place":["Yinchuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaochen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rehabilitation, The First People\u2019s Hospital of Yinchuan","place":["Yinchuan, China"]},{"name":"Second College of Clinical Medicine, Ningxia Medical University","place":["Yinchuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Dou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rehabilitation, The First People\u2019s Hospital of Yinchuan","place":["Yinchuan, China"]},{"name":"Second College of Clinical Medicine, Ningxia Medical University","place":["Yinchuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feixuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Second College of Clinical Medicine, Ningxia Medical University","place":["Yinchuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rehabilitation, The First People\u2019s Hospital of Yinchuan","place":["Yinchuan, China"]},{"name":"Second College of Clinical Medicine, Ningxia Medical University","place":["Yinchuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,25]]},"reference":[{"key":"B1","volume-title":"Diagnostic and Statistical Manual of Mental Disorders","year":"2013"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.15585\/mmwr.ss7202a1","article-title":"Prevalence and characteristics of autism spectrum disorder among children aged 8 years\u2014Autism and Developmental Disabilities Monitoring Network, 11 sites, United States, 2020\u201d","volume":"72","author":"Maenner","year":"2023","journal-title":"MMWR Surveill Summ"},{"key":"B3","doi-asserted-by":"publisher","first-page":"2029","DOI":"10.1038\/s41436-021-01242-6","article-title":"Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence- based clinical guideline of the American College of Medical Genetics and Genomics.","volume":"23","author":"Manickam","year":"2021","journal-title":"Genet Med"},{"key":"B4","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1111\/pcn.12860","article-title":"Autism spectrum disorder: trends in research exploring etiopathogenesis","volume":"73","author":"Gyawali","year":"2019","journal-title":"Psychiatry Clin Neurosci"},{"key":"B5","doi-asserted-by":"publisher","first-page":"36","DOI":"10.3390\/genes13010036","article-title":"Diagnostic yield and economic implications of whole-exome sequencing for ASD diagnosis in Israel.","volume":"13","author":"Ishay","year":"2022","journal-title":"Genes (Basel)"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12864-024-11077-5","article-title":"Unveiling genetic insights: array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder","volume":"25","author":"Granata","year":"2024","journal-title":"BMC Genomics"},{"key":"B7","doi-asserted-by":"publisher","first-page":"24310640","DOI":"10.1101\/2024.07.18.24310640","article-title":"Chromosome X-wide common variant association study (XWAS) in autism spectrum disorder","volume":"18","author":"Mendes","year":"2024","journal-title":"medRxiv"},{"key":"B8","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1038\/nrg.2017.4","article-title":"Autism genetics: opportunities and challenges for clinical translation","volume":"18","author":"Vorstman","year":"2017","journal-title":"Nat Rev Genet"},{"key":"B9","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1038\/nature11396","article-title":"Rate of de novo mutations and the importance of father\u2019s age to disease risk","volume":"488","author":"Kong","year":"2012","journal-title":"Nature"},{"key":"B10","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1038\/nature24018","article-title":"Parental influence on human germline de novo mutations in 1,548 trios from Iceland","volume":"549","author":"J\u00f3nsson","year":"2017","journal-title":"Nature"},{"key":"B11","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/j.neuron.2012.12.029","article-title":"Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders","volume":"77","author":"Lim","year":"2013","journal-title":"Neuron"},{"key":"B12","doi-asserted-by":"publisher","first-page":"106340","DOI":"10.1016\/j.phrs.2022.106340","article-title":"Shank postsynaptic scaffolding proteins in autism spectrum disorder: mouse models and their dysfunctions in behaviors, synapses, and molecules.","volume":"182","author":"Jung","year":"2022","journal-title":"Pharmacol Res"},{"key":"B13","doi-asserted-by":"publisher","first-page":"1300310","DOI":"10.3389\/fphar.2023.1300310","article-title":"Umbelliprenin via increase in the MECP2 and attenuation of oxidative stress mitigates the autistic-like behaviors in mouse model of maternal separation stress","volume":"14","author":"Karimi","year":"2023","journal-title":"Front Pharmacol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1038\/nrn.2016.183","article-title":"SHANK Proteins: roles at the synapse and in autism spectrum disorder","volume":"18","author":"Monteiro","year":"2017","journal-title":"Nat Rev Neurosci"},{"key":"B15","doi-asserted-by":"publisher","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":"B16","doi-asserted-by":"publisher","DOI":"10.1101\/2024.06.04.597393","article-title":"TSC2 loss in neural progenitor cells suppresses translation of ASD\/NDD-associated transcripts in an mTORC1-and MNK1\/2-reversible fashion","author":"Pauline","year":"2024","journal-title":"bioRxiv"},{"key":"B17","doi-asserted-by":"publisher","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 Harbor Perspect Med"},{"key":"B18","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1038\/nrm2717","article-title":"Proximal events in Wnt signal transduction","volume":"10","author":"Stephane","year":"2009","journal-title":"Nat Rev Mol Cell Biol"},{"key":"B19","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.cell.2023.11.037","article-title":"A TCF4-dependent gene regulatory network confers resistance to immunotherapy in melanoma.","volume":"187","author":"Joanna","year":"2024","journal-title":"Cell"},{"key":"B20","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1016\/j.ajhg.2020.10.002","article-title":"NCKAP1 Disruptive variants lead to a neurodevelopmental disorder with core features of autism.","volume":"107","author":"Guo","year":"2020","journal-title":"Am J Hum Genet"},{"key":"B21","doi-asserted-by":"publisher","first-page":"eaax2166","DOI":"10.1126\/sciadv.aax2166","article-title":"Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.","volume":"5","author":"Guo","year":"2019","journal-title":"Sci Adv"},{"key":"B22","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1016\/j.ajhg.2014.03.018","article-title":"Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.","volume":"94","author":"Pinto","year":"2014","journal-title":"Am J Hum Genet"},{"key":"B23","doi-asserted-by":"publisher","first-page":"2233","DOI":"10.1016\/j.csbj.2025.05.043","article-title":"Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort.","volume":"27","author":"Zhang","year":"2025","journal-title":"Comput Struct Biotechnol J"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1829150\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:22:01Z","timestamp":1782361321000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1829150\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,25]]},"references-count":23,"alternative-id":["10.3389\/fped.2026.1829150"],"URL":"https:\/\/doi.org\/10.3389\/fped.2026.1829150","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,25]]},"article-number":"1829150"}}