Birutė Burnytė, Algirdas Utkus, Vaidas Dirsė, Vaidutis Kučinskas
Rubinstein–Taybi syndrome is detected in patients who have such clinical features as mental retardation, growth retardation, broad thumbs and toes, retarded osseous maturation, microcephaly, typical craniofacial abnormalities. Rubinstein–Taybi syndrome is related to two groups of genetic causes. In more than half of all cases, mutations (point mutations, microdeletions) in CREBBP (cAMP response element binding protein gene (16p13.3 cytogenetic band) are detected. Rarely mutation is detected in EP300 gene (E1A-binding protein) (22q13 cytogenetic band). It is considered that these mutations manifest as transcriptional, translational and kinase pathway disruption, which are the main symptoms for Rubinstein–Taybi syndrome differentiation diagnosis. Genetic anomalies that cause Ru¬binstein–Taybi syndrome are tested by molecular genetic methods, while fluorescence in situ hybridization is used to test for „classic“ cases. Precise determination of genetic abnormality improves the diagnosis of Rubinstein–Taybi syndrome and potential good outcome. We present a case report of this rare syndrome confirmed using fluorescence in situ hybridization and discuss the current understanding of molecular mechanisms of intellectual disability.
Article in Lithuanian
Keyword(s): Rubinstein–Taybi syndrome; intellectual disability; fluorescence in situ hybridization; CREBBP
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