{"id":1981,"date":"2025-07-01T14:58:33","date_gmt":"2025-07-01T11:58:33","guid":{"rendered":"https:\/\/pediatria-spisanie.eu\/2025\/07\/01\/persestirast-arterialen-kanal-nedonoseni-2-2-2-2-2\/"},"modified":"2025-07-01T20:49:13","modified_gmt":"2025-07-01T17:49:13","slug":"persestirast-arterialen-kanal-nedonoseni-2-2-2-2-2","status":"publish","type":"post","link":"https:\/\/pediatria-spisanie.eu\/en\/2025\/07\/01\/persestirast-arterialen-kanal-nedonoseni-2-2-2-2-2\/","title":{"rendered":"Rubinstein-Taybi syndrome due to a novel mutation in the CREBBP gene"},"content":{"rendered":"\n

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D. Atova1,2, Tr. Delchev1,2, M. Sredkova1, G. Zlatanova2,3, D. Kachakova4, N. Ivanova4, R. Kaneva2,4, D. Avdjieva-Tzavella1,2 <\/h3>\n

1Department of Clinical genetics, University Pediatric Hospital, Sofia, Bulgaria\n2Medical University of Sofia, Bulgaria\n3Department of Paediatric Nephrology and Haemodialysis, University Pediatric Hospital, Sofia, Bulgaria\n4Genome Diagnostics Laboratory, Center for Molecular Medicine, Sofia, Bulgaria\n<\/br>\n<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t\n

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Anstract<\/h2>\n\n\n\n

Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by distinctive facial dysmorphism, microcephaly, specific skeletal abnormalities, intellectual disability, and delayed postnatal growth. The disease is caused by pathogenic variants in the CREBBP<\/em> and EP300<\/em> genes.<\/p>\n\n\n\n

We present a case of a 10-month-old female infant with microcephaly, dysmorphic features, broad, angulated thumbs, congenital heart malformation, nephrocalcinosis, and delayed physical and neurodevelopment. Whole exome sequencing revealed a pathogenic variant c.3635_3657dupGT (p.Thr1220Valfs*31) in exon 19 of the CREBBP<\/em> gene. The identified variant does not appear in the database. The presented clinical case expands the genotype spectrum and genotype-phenotype correlations in Rubinstein-Taybi syndrome.<\/p>\n\n\n\n

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Key words:<\/em><\/strong> Rubinstein-Taybi syndrome, novel mutation, CREBBP<\/em> gene<\/p>\n\n\n

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Bibliography<\/strong><\/h2>\n\n\n\n
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  1. Stevens CA. Rubinstein-Taybi Syndrome. 2002 Aug 30 [Updated 2023 Nov 9]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae, Seattle (WA): University of Washington, Seattle; 1993-2025.<\/li>\n\n\n\n
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  4. Fergelot P, Van Belzen M, Van Gils J et al. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. Am J Med Genet A. 2016;170(12)<\/li>\n\n\n\n
  5. Banka S, Sayer R, Breen C et al. Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Am J Med Genet A. 2019;179(6):1058-1062.<\/li>\n\n\n\n
  6. Negri G, Magini P, Milani D et al. From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. Hum Mutat. 2016;37(2)<\/li>\n\n\n\n
  7. Tajir M, Fergelot P, Lancelot G et al. Germline mosaicism in Rubinstein-Taybi syndrome. Gene. 2013 Apr.<\/li>\n\n\n\n
  8. Lacombe D, Wiley S, Hennekam RC et al. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. J Med Genet. 2024;61(6)<\/li>\n\n\n\n
  9. Boot MV, van Belzen MJ, Overbeek LI, et al. Benign and malignant tumors in Rubinstein-Taybi syndrome. Am J Med Genet A. 2018;176(3):597-608.<\/li>\n\n\n\n
  10. Beets L, Rodr\u0131 \u0301guez-Fonseca C, Hennekam RC. 2014. Growth charts for individuals with Rubinstein\u2013Taybi Syndrome. Am J Med Genet Part A 164A:2300\u20132309.<\/li>\n<\/ol>\n\n\n
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    \u0410ddres for corespondense:<\/strong><\/p>\n\n\n\n

    Dina Atova<\/strong>, <\/p>\n\n\n\n

    Department of Clinical genetics, SBALDB University Pediatric Hospital, <\/p>\n\n\n\n

    Medical University of Sofia; <\/p>\n\n\n\n

    Sofia, <\/p>\n\n\n\n

    Bulgaria, <\/p>\n\n\n\n

    11, Ivan Geshov, Blvd.<\/p>\n\n\n\n

    e-mail: dinaatova@yahoo.com<\/a><\/em><\/p>\n\n\n\n

    <\/p>\n\n\n\n

    <\/p>\n","protected":false},"excerpt":{"rendered":"

    D. Atova1,2, Tr. Delchev1,2, M. Sredkova1, G. Zlatanova2,3, D. Kachakova4, N. Ivanova4, R. Kaneva2,4, D. Avdjieva-Tzavella1,2<\/p>\n

    1Department of Clinical genetics, University Pediatric Hospital, Sofia, Bulgaria
    \n2Medical University of Sofia, Bulgaria
    \n3Department of Paediatric Nephrology and Haemodialysis, University Pediatric Hospital, Sofia, Bulgaria
    \n4Genome Diagnostics Laboratory, Center for Molecular Medicine, Sofia, Bulgaria<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_pediatria_doi":"","footnotes":""},"categories":[1301,2515],"tags":[2544,2545,2546,2547,2548,2549],"class_list":["post-1981","post","type-post","status-publish","format-standard","hentry","category-articles","category-issue-2-2025","tag-crebbp-gene-en","tag-novel-mutation-en","tag-rubinstein-taybi-syndrome-en","tag-gen-crebbp-en","tag-sindrom-na-rubinstein-taybi-en","tag-sindrom-na-rubinstein-taybi-sledstvie-na-nova-mutacziya-v-gena-crebbp-en"],"_links":{"self":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/1981","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/comments?post=1981"}],"version-history":[{"count":1,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/1981\/revisions"}],"predecessor-version":[{"id":1983,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/1981\/revisions\/1983"}],"wp:attachment":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/media?parent=1981"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/categories?post=1981"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/tags?post=1981"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}