Caksen, H.Bartsch, O.Okur, M.Temel, H.Acikgoz, M.Yilmaz, C.2025-05-102025-05-1020091015-81462-s2.0-70350142762https://hdl.handle.net/20.500.14720/20394Rubinstein-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.eninfo:eu-repo/semantics/closedAccessRubinstein-Taybi SyndromeImmunodeficiencyMeningoencephalitisMutationArticle203N/AN/A25526019852432WOS:000270670900007