{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T21:38:05Z","timestamp":1792532285337,"version":"4.5.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s11033-025-10302-y","type":"journal-article","created":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T11:03:31Z","timestamp":1739876611000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants"],"prefix":"10.1007","volume":"52","author":[{"given":"Sahar","family":"Bayat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milad","family":"Gholami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamidreza","family":"Khodadadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Ghazavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jafar","family":"Nasiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Kheirollahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,2,18]]},"reference":[{"key":"10302_CR1","doi-asserted-by":"publisher","first-page":"990098","DOI":"10.3389\/fgene.2022.990098","volume":"13","author":"F Zeng","year":"2022","unstructured":"Zeng F, Yang Y, Xu Z, Wang Z, Ke H, Zhang J et al (2022) Clinical manifestations and genetic analysis of a newborn with Arboleda\u2013\u2009Tham syndrome. Front Genet 13:990098","journal-title":"Front Genet"},{"issue":"4","key":"10302_CR2","first-page":"850","volume":"21","author":"J Kennedy","year":"2019","unstructured":"Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V et al (2019) KAT6A syndrome: genotype\u2013phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Sci 21(4):850\u2013860","journal-title":"Genet Sci"},{"issue":"37","key":"10302_CR3","doi-asserted-by":"publisher","first-page":"5395","DOI":"10.1038\/sj.onc.1210608","volume":"26","author":"N Avvakumov","year":"2007","unstructured":"Avvakumov N, Cote J (2007) The MYST family of histone acetyltransferases and their intimate links to cancer. Oncogene 26(37):5395\u20135407","journal-title":"Oncogene"},{"issue":"5","key":"10302_CR4","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1016\/j.devcel.2009.10.006","volume":"17","author":"AK Voss","year":"2009","unstructured":"Voss AK, Collin C, Dixon MP, Thomas T (2009) Moz and retinoic acid coordinately regulate H3K9 acetylation, hox gene expression, and segment identity. Dev Cell 17(5):674\u2013686","journal-title":"Dev Cell"},{"issue":"2","key":"10302_CR5","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1093\/nar\/gkt931","volume":"42","author":"I Dreveny","year":"2014","unstructured":"Dreveny I, Deeves SE, Fulton J, Yue B, Messmer M, Bhattacharya A et al (2014) The double PHD finger domain of MOZ\/MYST3 induces \u03b1-helical structure of the histone H3 tail to facilitate acetylation and methylation sampling and modification. Nucleic Acids Res 42(2):822\u2013835","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"10302_CR6","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1016\/j.jmb.2012.10.004","volume":"424","author":"M Ali","year":"2012","unstructured":"Ali M, Yan K, Lalonde M-E, Degerny C, Rothbart SB, Strahl BD et al (2012) Tandem PHD fingers of MORF\/MOZ acetyltransferases display selectivity for acetylated histone H3 and are required for the association with chromatin. J Mol Biol 424(5):328\u2013338","journal-title":"J Mol Biol"},{"issue":"50","key":"10302_CR7","doi-asserted-by":"publisher","first-page":"36603","DOI":"10.1074\/jbc.M705812200","volume":"282","author":"MA Holbert","year":"2007","unstructured":"Holbert MA, Sikorski T, Carten J, Snowflack D, Hodawadekar S, Marmorstein R (2007) The human monocytic leukemia zinc finger histone acetyltransferase domain contains DNA-binding activity implicated in chromatin targeting. J Biol Chem 282(50):36603\u201336613","journal-title":"J Biol Chem"},{"issue":"15","key":"10302_CR8","doi-asserted-by":"publisher","first-page":"e115","DOI":"10.1093\/nar\/gks596","volume":"40","author":"A Untergasser","year":"2012","unstructured":"Untergasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, Remm M et al (2012) Primer3\u2014new capabilities and interfaces. Nucleic Acids Res 40(15):e115\u2013e","journal-title":"Nucleic Acids Res"},{"key":"10302_CR9","unstructured":"Information NCfB National Center for Biotechnology Information 2024 [Available from: https:\/\/www.ncbi.nlm.nih.gov"},{"key":"10302_CR10","unstructured":"Templeton F Franklin Templeton 2024 [Available from: https:\/\/www.franklinresources.com"},{"key":"10302_CR11","unstructured":"Saphetor Varsome 2024 [Available from: https:\/\/www.varsome.com"},{"key":"10302_CR12","unstructured":"Institute of Medical Genetics CU (2024) The Human Gene Mutation Database"},{"issue":"1","key":"10302_CR13","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1038\/s41598-020-57929-4","volume":"10","author":"H Darvish","year":"2020","unstructured":"Darvish H, Azcona LJ, Tafakhori A, Mesias R, Ahmadifard A, Sanchez E et al (2020) Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes. Sci Rep 10(1):968","journal-title":"Sci Rep"},{"issue":"12","key":"10302_CR14","doi-asserted-by":"publisher","first-page":"1705","DOI":"10.1007\/s00439-023-02608-3","volume":"142","author":"M Singh","year":"2023","unstructured":"Singh M, Spendlove SJ, Wei A, Bondhus LM, Nava AA, de Vitorino L (2023) KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster. Hum Genet 142(12):1705\u20131720","journal-title":"Hum Genet"},{"key":"10302_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12920-021-01148-x","volume":"14","author":"S Bae","year":"2021","unstructured":"Bae S, Yang A, Kim J, Lee HJ, Park HK (2021) Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review. BMC Med Genom 14:1\u20138","journal-title":"BMC Med Genom"},{"key":"10302_CR16","doi-asserted-by":"publisher","first-page":"100729","DOI":"10.1016\/j.drup.2020.100729","volume":"53","author":"N Wiesel-Motiuk","year":"2020","unstructured":"Wiesel-Motiuk N, Assaraf YG (2020) The key roles of the lysine acetyltransferases KAT6A and KAT6B in physiology and pathology. Drug Resist Updates 53:100729","journal-title":"Drug Resist Updates"},{"issue":"14","key":"10302_CR17","doi-asserted-by":"publisher","first-page":"1900","DOI":"10.1128\/MCB.00055-16","volume":"36","author":"F Huang","year":"2016","unstructured":"Huang F, Abmayr SM, Workman JL (2016) Regulation of KAT6 acetyltransferases and their roles in cell cycle progression, stem cell maintenance, and human disease. Mol Cell Biol 36(14):1900\u20131907","journal-title":"Mol Cell Biol"},{"issue":"3","key":"10302_CR18","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1167\/iovs.65.3.25","volume":"65","author":"B Kunisetty","year":"2024","unstructured":"Kunisetty B, Martin-Giacalone BA, Zhao X, Luna PN, Brooks BP, Hufnagel RB et al (2024) High clinical exome sequencing diagnostic rates and novel phenotypic expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma. Investig Ophthalmol Vis Sci 65(3):25","journal-title":"Investig Ophthalmol Vis Sci"},{"issue":"17","key":"10302_CR19","doi-asserted-by":"publisher","first-page":"4068","DOI":"10.3390\/cancers14174068","volume":"14","author":"G Zu","year":"2022","unstructured":"Zu G, Liu Y, Cao J, Zhao B, Zhang H, You L (2022) BRPF1-KAT6A\/KAT6B complex: molecular structure, biological function and human disease. Cancers 14(17):4068","journal-title":"Cancers"},{"issue":"2","key":"10302_CR20","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1093\/nar\/gkac1188","volume":"51","author":"LM Weber","year":"2023","unstructured":"Weber LM, Jia Y, Stielow B, Gisselbrecht SS, Cao Y, Ren Y et al (2023) The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain. Nucleic Acids Res 51(2):574\u2013594","journal-title":"Nucleic Acids Res"},{"issue":"9","key":"10302_CR21","doi-asserted-by":"publisher","first-page":"2562","DOI":"10.1002\/ajmg.a.38330","volume":"173","author":"N Zwaveling-Soonawala","year":"2017","unstructured":"Zwaveling-Soonawala N, Maas SM, Alders M, Majoie CB, Fliers E, van Trotsenburg AP et al (2017) Variants in KAT6A and pituitary anomalies. Am J Med Genet A 173(9):2562\u20132565","journal-title":"Am J Med Genet A"},{"issue":"3","key":"10302_CR22","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1002\/ajmg.10776","volume":"112","author":"FR Goodman","year":"2002","unstructured":"Goodman FR (2002) Limb malformations and the human HOX genes. Am J Med Genet 112(3):256\u2013265","journal-title":"Am J Med Genet"},{"issue":"1","key":"10302_CR23","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/s13601-017-0155-x","volume":"7","author":"V Elenius","year":"2017","unstructured":"Elenius V, L\u00e4hdesm\u00e4ki T, Hietala M, Jartti T (2017) Food allergy in a child with de novo KAT6A mutation. Clin Translational Allergy 7(1):19","journal-title":"Clin Translational Allergy"},{"issue":"18","key":"10302_CR24","doi-asserted-by":"publisher","first-page":"1880","DOI":"10.1001\/jama.2014.14604","volume":"312","author":"H Lee","year":"2014","unstructured":"Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F et al (2014) Clinical exome sequencing for genetic identification of rare mendelian disorders. JAMA 312(18):1880\u20131887","journal-title":"JAMA"},{"issue":"9975","key":"10302_CR25","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1016\/S0140-6736(14)61705-0","volume":"385","author":"CF Wright","year":"2015","unstructured":"Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, Van Kogelenberg M et al (2015) Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet 385(9975):1305\u20131314","journal-title":"Lancet"},{"key":"10302_CR26","doi-asserted-by":"crossref","unstructured":"Guo R, Duan C, Zarrei M, Reuter MS, Dong R, Zhang G et al (2024) Genetic findings of children with congenital heart diseases using chromosome microarray and trio-based whole exome sequencing","DOI":"10.21203\/rs.3.rs-3969530\/v1"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-025-10302-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11033-025-10302-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-025-10302-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T16:31:52Z","timestamp":1766853112000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11033-025-10302-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,18]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10302"],"URL":"https:\/\/doi.org\/10.1007\/s11033-025-10302-y","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"value":"0301-4851","type":"print"},{"value":"1573-4978","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,18]]},"assertion":[{"value":"26 November 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures performed in the studies involving human participants were in accordance with the ethical standards of the local ethics committee of Isfahan University of Medical Science (IR.MUI.MED.REC.1402.398), as well as the 1964 Helsinki declaration. Written informed consent was obtained from the legal guardians of patients prior to sample collection.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"was obtained from all the legal guardians of the individuals presented in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"242"}}