Rubinstein-Taybi Syndrome and Crebbp C.201_202delta Mutation: a Case Presenting With Varicella Meningoencephalitis
dc.authorscopusid | 7101974609 | |
dc.authorscopusid | 35241953100 | |
dc.authorscopusid | 36180210800 | |
dc.authorscopusid | 26030045000 | |
dc.authorscopusid | 16834732700 | |
dc.authorscopusid | 8421729700 | |
dc.authorwosid | Bartsch, Oliver/Abe-2681-2020 | |
dc.authorwosid | Temel, Hayrettin/Aaq-3801-2020 | |
dc.authorwosid | Okur, Mesut/Aas-6957-2020 | |
dc.contributor.author | Caksen, H. | |
dc.contributor.author | Bartsch, O. | |
dc.contributor.author | Okur, M. | |
dc.contributor.author | Temel, H. | |
dc.contributor.author | Acikgoz, M. | |
dc.contributor.author | Yilmaz, C. | |
dc.date.accessioned | 2025-05-10T17:58:59Z | |
dc.date.available | 2025-05-10T17:58:59Z | |
dc.date.issued | 2009 | |
dc.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
dc.department-temp | [Caksen, H.; Yilmaz, C.] Yuzuncu Yil Univ, Fac Med, Dept Pediat Neurol, TR-65100 Van, Turkey; [Bartsch, O.] Johannes Gutenberg Univ Mainz, Inst Human Genet, Univ Med, Mainz, Germany; [Okur, M.; Temel, H.; Acikgoz, M.] Yuzuncu Yil Univ, Fac Med, Dept Pediat, TR-65100 Van, Turkey | en_US |
dc.description.abstract | Rubinstein-Taybi syndrome and CREBBP c.201_202delTA mutation: A case presenting with varicella meningoencephalitis: Rubinstein-Taybi syndrome (RTS) is a rare syndrome with a frequency of approximately 1 in 125,000 affected newborns, which is characterized by mental retardation, growth retardation, a particular dysmorphology and, in a subset of cases, immunodeficiency. RTS is typically caused by CREBBP deficiency, and heterozygous mutation or deletion of the CREBBP gene has been identified in 60-70% of patients. The inheritance is autosomal dominant but reports of vertical transmission are exceedingly rare; near-all cases are caused by de novo mutations. Here we present an 8-month-old boy with varicella meningoencephalitis, RTS, and a de novo deletion of the CREBBP gene of two base pairs at position 201-202 in exon 2, c. 201_202derr. The mutation has not been described previously but it predicts a protein truncation, and truncating CREBBP mutations are typical causes of RTS. | en_US |
dc.description.woscitationindex | Science Citation Index Expanded | |
dc.identifier.endpage | 260 | en_US |
dc.identifier.issn | 1015-8146 | |
dc.identifier.issue | 3 | en_US |
dc.identifier.pmid | 19852432 | |
dc.identifier.scopus | 2-s2.0-70350142762 | |
dc.identifier.scopusquality | N/A | |
dc.identifier.startpage | 255 | en_US |
dc.identifier.uri | https://hdl.handle.net/20.500.14720/20394 | |
dc.identifier.volume | 20 | en_US |
dc.identifier.wos | WOS:000270670900007 | |
dc.identifier.wosquality | N/A | |
dc.language.iso | en | en_US |
dc.publisher | Medecine Et Hygiene | en_US |
dc.relation.ispartof | Genetic Counseling | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Rubinstein-Taybi Syndrome | en_US |
dc.subject | Immunodeficiency | en_US |
dc.subject | Meningoencephalitis | en_US |
dc.subject | Mutation | en_US |
dc.title | Rubinstein-Taybi Syndrome and Crebbp C.201_202delta Mutation: a Case Presenting With Varicella Meningoencephalitis | en_US |
dc.type | Article | en_US |