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Browsing by Author "Bartsch, O."

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    Rubinstein-Taybi Syndrome and Crebbp C.201_202delta Mutation: a Case Presenting With Varicella Meningoencephalitis
    (Medecine Et Hygiene, 2009) Caksen, H.; Bartsch, O.; Okur, M.; Temel, H.; Acikgoz, M.; Yilmaz, C.
    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.