{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T06:29:49Z","timestamp":1772778589186,"version":"3.50.1"},"reference-count":27,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020970","name":"Rashtriya Uchchatar Shiksha Abhiyan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020970","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100025231","name":"University of Jammu","doi-asserted-by":"publisher","award":["\/2022-23\/3246-52"],"award-info":[{"award-number":["\/2022-23\/3246-52"]}],"id":[{"id":"10.13039\/501100025231","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.gene.2025.149688","type":"journal-article","created":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T15:55:38Z","timestamp":1753458938000},"page":"149688","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["A 261\u00a0kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India"],"prefix":"10.1016","volume":"965","author":[{"given":"Rama","family":"Sharma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0187-5197","authenticated-orcid":false,"given":"Ankit","family":"Mahajan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nisha","family":"Kapoor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjana","family":"Kaul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subramaniya","family":"Bharathiraja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamal Kishore","family":"Pandita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manoj Kumar","family":"Dhar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2025.149688_b0005","article-title":"Chromosome 16p13.3 contiguous gene deletion syndrome including the SLX4, DNASE1, TRAP1, and CREBBP genes presenting as a relatively mild Rubinstein-Taybi syndrome phenotype: a case report of a Saudi Boy","volume":"2020","author":"Al-Qattan","year":"2020","journal-title":"Case Rep. Genet."},{"issue":"9","key":"10.1016\/j.gene.2025.149688_b0010","doi-asserted-by":"crossref","first-page":"2536","DOI":"10.1002\/ajmg.a.62867","article-title":"The behavioral phenotype of Rubinstein-Taybi syndrome: a scoping review of the literature","volume":"188","author":"Awan","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"issue":"7","key":"10.1016\/j.gene.2025.149688_b0015","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1136\/jmg.39.7.496","article-title":"Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP","volume":"39","author":"Bartsch","year":"2002","journal-title":"J. Med. Genet."},{"issue":"2","key":"10.1016\/j.gene.2025.149688_b0020","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s00439-006-0215-0","article-title":"Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome","volume":"120","author":"Bartsch","year":"2006","journal-title":"Hum. Genet."},{"issue":"10","key":"10.1016\/j.gene.2025.149688_b0025","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1038\/nrg3555","article-title":"Rare-disease genetics in the era of next-generation sequencing: discovery to translation","volume":"14","author":"Boycott","year":"2013","journal-title":"Nat. Rev. Genet."},{"issue":"2","key":"10.1016\/j.gene.2025.149688_b0030","first-page":"81","article-title":"Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits","volume":"2","author":"Cantani","year":"1998","journal-title":"Eur. Rev. Med. Pharmacol. Sci."},{"issue":"9","key":"10.1016\/j.gene.2025.149688_b0035","doi-asserted-by":"crossref","first-page":"4691","DOI":"10.1128\/MCB.16.9.4691","article-title":"A new member of the hsp90 family of molecular chaperones interacts with the retinoblastoma protein during mitosis and after heat shock","volume":"16","author":"Chen","year":"1996","journal-title":"Mol. Cell Biol."},{"issue":"5","key":"10.1016\/j.gene.2025.149688_b0040","doi-asserted-by":"crossref","first-page":"3305","DOI":"10.1074\/jbc.275.5.3305","article-title":"The hsp90-related protein TRAP1 is a mitochondrial protein with distinct functional properties","volume":"275","author":"Felts","year":"2000","journal-title":"J. Biol. Chem."},{"issue":"12","key":"10.1016\/j.gene.2025.149688_b0045","doi-asserted-by":"crossref","first-page":"3069","DOI":"10.1002\/ajmg.a.37940","article-title":"Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations","volume":"170","author":"Fergelot","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"issue":"5","key":"10.1016\/j.gene.2025.149688_b0050","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/j.ygeno.2007.07.012","article-title":"High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints","volume":"90","author":"Gervasini","year":"2007","journal-title":"Genomics"},{"issue":"9","key":"10.1016\/j.gene.2025.149688_b0055","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1186\/gb-2011-12-9-228","article-title":"Unlocking Mendelian disease using exome sequencing","volume":"12","author":"Gilissen","year":"2011","journal-title":"Genome Biol."},{"issue":"8","key":"10.1016\/j.gene.2025.149688_b0060","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1016\/j.jhsa.2014.08.043","article-title":"Rubinstein-Taybi Syndrome","volume":"40","author":"Hutchinson","year":"2015","journal-title":"J. Hand Surg. Am."},{"issue":"1","key":"10.1016\/j.gene.2025.149688_b0065","first-page":"121","article-title":"Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas","volume":"47","author":"Kishi","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2025.149688_b0070","doi-asserted-by":"crossref","DOI":"10.1136\/jmg-2023-109438","article-title":"Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement","author":"Lacombe","year":"2024","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.gene.2025.149688_b0075","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.gene.2012.02.043","article-title":"A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome","volume":"499","author":"Lai","year":"2012","journal-title":"Gene"},{"issue":"3","key":"10.1016\/j.gene.2025.149688_b0080","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s00439-019-01985-y","article-title":"Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders","volume":"138","author":"Negri","year":"2019","journal-title":"Hum. Genet."},{"issue":"6538","key":"10.1016\/j.gene.2025.149688_b0085","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/376348a0","article-title":"Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP","volume":"376","author":"Petrij","year":"1995","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.gene.2025.149688_b0090","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/(SICI)1096-8628(20000501)92:1<47::AID-AJMG8>3.0.CO;2-H","article-title":"Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3)","volume":"92","author":"Petrij","year":"2000","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.gene.2025.149688_b0095","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1086\/429130","article-title":"Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease","volume":"76","author":"Roelfsema","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2025.149688_b0100","doi-asserted-by":"crossref","DOI":"10.12688\/f1000research.19444.1","article-title":"Exome sequencing in genetic disease: recent advances and considerations","volume":"9","author":"Ross","year":"2020","journal-title":"F1000Res"},{"key":"10.1016\/j.gene.2025.149688_b0105","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1001\/archpedi.1963.02080040590010","article-title":"Broad thumbs and toes and facial abnormalities. a possible mental retardation syndrome","volume":"105","author":"Rubinstein","year":"1963","journal-title":"Am. J. Dis. Child."},{"issue":"6","key":"10.1016\/j.gene.2025.149688_b0110","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s00439-015-1542-9","article-title":"Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire","volume":"134","author":"Rusconi","year":"2015","journal-title":"Hum. Genet."},{"issue":"19","key":"10.1016\/j.gene.2025.149688_b0115","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1002\/ajmg.a.32424","article-title":"Genotype-phenotype correlations in Rubinstein-Taybi syndrome","volume":"146A","author":"Schorry","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"issue":"3","key":"10.1016\/j.gene.2025.149688_b0120","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1055\/s-0035-1564571","article-title":"Ultra-rare syndromes: the example of Rubinstein-Taybi syndrome","volume":"4","author":"Spena","year":"2015","journal-title":"J. Pediatr. Genet."},{"issue":"8","key":"10.1016\/j.gene.2025.149688_b0125","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1038\/sj.ejhg.5201847","article-title":"Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients","volume":"15","author":"Stef","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"issue":"16","key":"10.1016\/j.gene.2025.149688_b0130","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"issue":"1","key":"10.1016\/j.gene.2025.149688_b0135","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1186\/s12920-022-01335-4","article-title":"A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome","volume":"15","author":"Wang","year":"2022","journal-title":"BMC Med. Genomics"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111925004779?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111925004779?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T05:25:07Z","timestamp":1772774707000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111925004779"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":27,"alternative-id":["S0378111925004779"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2025.149688","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A 261\u00a0kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2025.149688","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"149688"}}