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Whole-exome sequencing and sanger sequencing were performed on the patient and his parents, a large intragenic deletion, covering the exon 1 region and part of the intron 1 region of the TRAP1 gene, and the entire region from intron 27 to exon 30 of the CREBBP gene (chr16:3745393-3783894) was identified on the patient. This mutation affected the CREBBP histone acetyltransferase (HAT) domain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This findings in our patient add to the spectrum of genetic variants described in Rubinstein\u2013Taybi syndrome and present a RSTS patient with various ocular anomalies including early onset glaucoma.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12920-022-01335-4","type":"journal-article","created":{"date-parts":[[2022,8,19]],"date-time":"2022-08-19T04:02:37Z","timestamp":1660881757000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel CREBBP mutation and its phenotype in a case of Rubinstein\u2013Taybi syndrome"],"prefix":"10.1186","volume":"15","author":[{"given":"Qian","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen Bin","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei Ning","family":"Rong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang Yu","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,8,19]]},"reference":[{"key":"1335_CR1","first-page":"30","volume":"6","author":"CA Stevens","year":"1990","unstructured":"Stevens CA, Carey JC, Blackburn BL. 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The consent form signed by the legal guardians of the patients (parents) has been explained in detail by the researchers, and the they have no questions about the terms. Ethical aspects of the studies and procedures related to clinical examination, human sample collection and genetic analysis were approved by the Medical Ethics Committee of the Beijing Tongren Hospital. All methods were performed in accordance with the relevant guidelines and regulations of the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The purpose of the study and its importance to patients and scientific community was explained to the parents of the affected individual by the clinicians. Written consent to publish study finding and to publish the images of the patient in an online open-access publication were obtained from legal guardians of the affected individuals. Clinicians involved in the disease diagnosis coordinated the consent to research team for genetic investigations.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing intrests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"182"}}