{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T09:52:03Z","timestamp":1781603523213,"version":"3.54.5"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,16]]},"DOI":"10.7759\/cureus.110944","type":"journal-article","created":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T08:56:53Z","timestamp":1781600213000},"source":"Crossref","is-referenced-by-count":0,"title":["AUTS2 Gene Variant Causing Intellectual Developmental Disorder, Autosomal Dominant 26 (MRD26): A Report of a Paediatric Case From the Arabian Peninsula"],"prefix":"10.7759","author":[{"given":"Zubaida","family":"Aldoseri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babaker","family":"Hassan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","unstructured":"OMIM. Intellectual developmental disorder, autosomal dominant 26; MRD26. (2024). Accessed: May 20, 2026: https:\/\/omim.org\/entry\/615834."},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.173","article-title":"Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome","volume":"23","author":"Beunders G","year":"2015","unstructured":"Beunders G, de Munnik SA, Van der Aa N, et al.. Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. Eur J Hum Genet. 2015, 23:803-7. 10.1038\/ejhg.2014.173","journal-title":"Eur J Hum Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.858582","article-title":"AUTS2 syndrome: molecular mechanisms and model systems","volume":"15","author":"Biel A","year":"2022","unstructured":"Biel A, Castanza AS, Rutherford R, et al.. AUTS2 syndrome: molecular mechanisms and model systems. Front Mol Neurosci. 2022, 15:858582. 10.3389\/fnmol.2022.858582","journal-title":"Front Mol Neurosci"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103601","article-title":"A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype","volume":"53","author":"Beunders G","year":"2016","unstructured":"Beunders G, van de Kamp J, Vasudevan P, et al.. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. J Med Genet. 2016, 53:523-32. 10.1136\/jmedgenet-2015-103601","journal-title":"J Med Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3390\/genes12091360","article-title":"Attention deficit hyperactivity and autism spectrum disorders as the core symptoms of AUTS2 syndrome: description of five new patients and update of the frequency of manifestations and genotype-phenotype correlation","volume":"12","author":"Sanchez-Jimeno C","year":"2021","unstructured":"Sanchez-Jimeno C, Blanco-Kelly F, L\u00f3pez-Grondona F, et al.. Attention deficit hyperactivity and autism spectrum disorders as the core symptoms of AUTS2 syndrome: description of five new patients and update of the frequency of manifestations and genotype-phenotype correlation. Genes (Basel). 2021, 12:1360. 10.3390\/genes12091360","journal-title":"Genes (Basel)"},{"key":"ref6","unstructured":"National Institute for Biotechnology Information. NM_015570.4(AUTS2):c.946C&gt;T (p.Arg316Ter). (2026). Accessed: June 15, 2026: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/489014\/?term=489014%5BVariation+ID%5D."},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6810","article-title":"Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins","volume":"80","author":"Sultana R","year":"2002","unstructured":"Sultana R, Yu CE, Yu J, et al.. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics. 2002, 80:129-34. 10.1006\/geno.2002.6810","journal-title":"Genomics"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003221","article-title":"Function and regulation of AUTS2, a gene implicated in autism and human evolution","volume":"9","author":"Oksenberg N","year":"2013","unstructured":"Oksenberg N, Stevison L, Wall JD, Ahituv N. Function and regulation of AUTS2, a gene implicated in autism and human evolution. PLoS Genet. 2013, 9:e1003221. 10.1371\/journal.pgen.1003221","journal-title":"PLoS Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2013.08.001","article-title":"The role of AUTS2 in neurodevelopment and human evolution","volume":"29","author":"Oksenberg N","year":"2013","unstructured":"Oksenberg N, Ahituv N. The role of AUTS2 in neurodevelopment and human evolution. Trends Genet. 2013, 29:600-8. 10.1016\/j.tig.2013.08.001","journal-title":"Trends Genet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2021.580433","article-title":"Untangle the multi-facet functions of AUTS2 as an entry point to understand neurodevelopmental disorders","volume":"12","author":"Pang W","year":"2021","unstructured":"Pang W, Yi X, Li L, Liu L, Xiang W, Xiao L. Untangle the multi-facet functions of AUTS2 as an entry point to understand neurodevelopmental disorders. Front Psychiatry. 2021, 12:580433. 10.3389\/fpsyt.2021.580433","journal-title":"Front Psychiatry"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0145979","article-title":"Heterozygous disruption of autism susceptibility candidate 2 causes impaired emotional control and cognitive memory","volume":"10","author":"Hori K","year":"2015","unstructured":"Hori K, Nagai T, Shan W, et al.. Heterozygous disruption of autism susceptibility candidate 2 causes impaired emotional control and cognitive memory. PLoS One. 2015, 10:e0145979. 10.1371\/journal.pone.0145979","journal-title":"PLoS One"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-019-0409-1","article-title":"AUTS2 isoforms control neuronal differentiation","volume":"26","author":"Monderer-Rothkoff G","year":"2021","unstructured":"Monderer-Rothkoff G, Tal N, Risman M, et al.. AUTS2 isoforms control neuronal differentiation. Mol Psychiatry. 2021, 26:666-81. 10.1038\/s41380-019-0409-1","journal-title":"Mol Psychiatry"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2025.101375","article-title":"AUTS2-related syndrome: Insights from a large European cohort","volume":"27","author":"Loberti L","year":"2025","unstructured":"Loberti L, Adamo L, Antolini E, et al.. AUTS2-related syndrome: Insights from a large European cohort. Genet Med. 2025, 27:101375. 10.1016\/j.gim.2025.101375","journal-title":"Genet Med"},{"key":"ref14","unstructured":"Leiden Open Variation Database (LOVD). Intellectual developmental disorder, autosomal dominant 26. (2026). Accessed: May 20, 2026: https:\/\/databases.lovd.nl\/shared\/diseases\/04098."},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0232101","article-title":"Ancestry of the AUTS2 family-a novel group of polycomb-complex proteins involved in human neurological disease","volume":"15","author":"Sellers RA","year":"2020","unstructured":"Sellers RA, Robertson DL, Tassabehji M. Ancestry of the AUTS2 family-a novel group of polycomb-complex proteins involved in human neurological disease. PLoS One. 2020, 15:e0232101. 10.1371\/journal.pone.0232101","journal-title":"PLoS One"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.011","article-title":"Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus","volume":"92","author":"Beunders G","year":"2013","unstructured":"Beunders G, Voorhoeve E, Golzio C, et al.. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet. 2013, 92:210-20. 10.1016\/j.ajhg.2012.12.011","journal-title":"Am J Hum Genet"},{"key":"ref17","unstructured":"QIAGEN. Human gene mutation database (HGMD) professional. (2026). Accessed: June 15, 2026: https:\/\/digitalinsights.qiagen.com\/products-overview\/clinical-insights-portfolio\/human-gene-mutation-database\/."},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0284-0","article-title":"Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation","volume":"121","author":"Kalscheuer VM","year":"2007","unstructured":"Kalscheuer VM, FitzPatrick D, Tommerup N, et al.. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet. 2007, 121:501-9. 10.1007\/s00439-006-0284-0","journal-title":"Hum Genet"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0554-6","article-title":"Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders","volume":"21","author":"Srivastava S","year":"2019","unstructured":"Srivastava S, Love-Nichols JA, Dies KA, et al.. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019, 21:2413-21. 10.1038\/s41436-019-0554-6","journal-title":"Genet Med"},{"key":"ref20","doi-asserted-by":"publisher","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 (ACMG)","volume":"23","author":"Manickam K","year":"2021","unstructured":"Manickam K, McClain MR, Demmer LA, et al.. 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 (ACMG). Genet Med. 2021, 23:2029-37. 10.1038\/s41436-021-01242-6","journal-title":"Genet Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/502989-auts2-gene-variant-causing-intellectual-developmental-disorder-autosomal-dominant-26-mrd26-a-report-of-a-paediatric-case-from-the-arabian-peninsula","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T08:56:58Z","timestamp":1781600218000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/502989-auts2-gene-variant-causing-intellectual-developmental-disorder-autosomal-dominant-26-mrd26-a-report-of-a-paediatric-case-from-the-arabian-peninsula"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,16]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.110944","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,6,16]]}}}