{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T08:50:02Z","timestamp":1777625402707,"version":"3.51.4"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,3]],"date-time":"2023-03-03T00:00:00Z","timestamp":1677801600000},"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:p>Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominantly inherited disease characterized by slow mental and physical growth, skeletal abnormalities (broad thumbs and big toes), and dysmorphic facial features. RSTS is associated with <jats:italic>de novo<\/jats:italic> variants of the epigenetic-associated gene CREBBP. RSTS is primarily diagnosed based on clinical manifestations and genetic testing. Cutis marmorata telangiectatica congenita (CMTC) is a rare, congenital, and typically benign vascular anomaly of unknown etiology; it is described as persistent reticulated marbled erythema. The diagnosis of CMTC is largely based on clinical features, and <jats:italic>GNA11<\/jats:italic> mutations are associated with CMTC. In this case report, we describe the case of a preterm infant (boy) with RSTS and CMTC who had a novel frameshift mutation leading to a premature stop codon in the CREBBP gene. This study adds the novel mutation c.5837dupC to the known molecular spectrum of disease-causing <jats:italic>CREBBP<\/jats:italic> gene mutations.<\/jats:p>","DOI":"10.3389\/fped.2023.1059658","type":"journal-article","created":{"date-parts":[[2023,3,3]],"date-time":"2023-03-03T04:44:39Z","timestamp":1677818679000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene"],"prefix":"10.3389","volume":"11","author":[{"given":"Yang","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanyuan","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianwen","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,3,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"6143050","DOI":"10.1155\/2020\/6143050","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"},{"key":"B2","doi-asserted-by":"publisher","first-page":"601","DOI":"10.24953\/turkjped.2017.05.017","article-title":"A case with rubinstein-taybi syndrome: a novel frameshift mutation in the CREBBP gene","volume":"59","author":"Eser","year":"2017","journal-title":"Turk J Pediatr"},{"key":"B3","doi-asserted-by":"publisher","first-page":"e1009","DOI":"10.1002\/mgg3.1009","article-title":"Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese rubinstein-taybi syndrome kids with high frequency of polydactyly","volume":"7","author":"Yu","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"B4","year":"2018"},{"key":"B5","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1186\/s13023-019-1229-8","article-title":"Cutis marmorata telangiectatica congenital: a literature review","volume":"14","author":"Bui","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"B6","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1097\/ICB.0000000000000736","article-title":"Retinal neovascularization from a patient with cuit marmorata telangiectatica congenita","volume":"15","author":"Sassalos","year":"2018","journal-title":"Retin Cases Brief Rep"},{"key":"B7","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1007\/s00415-015-7989-8","article-title":"Clinical, neurophysiological and morphological study of dominant intermediate charcot-marie-tooth type C neuropathy","volume":"263","author":"Thomas","year":"2016","journal-title":"J Neurol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1002\/ajmg.a.61134","article-title":"Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: case series and literature review","volume":"179","author":"Kumar","year":"2019","journal-title":"Am J Med Genet A"},{"key":"B9","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1001\/archpedi.1963.02080040590010","article-title":"Broad thumbs and toes and facial abnormalities. 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