SÍNDROME DE RUBINSTEIN-TAYBI: NOVA MUTAÇÃO NEW MUTATION OF RUBINSTEIN-TAYBI SYNDROME

Introduction: Rubinstein-Taybi Syndrome (RTS) occurs in 1:100 000 – 125 000 and is caused by cr16p13.3 microdelection, mutation of CREBBP or EP300. Case report: Eight year-old female born of uneventful pregnancy with big thumbs and bilateral luxation and fusion of first phalanges. First evaluation occurred at the age of 3 years due to global developmental delay, language impairment and hyperkinetic behavior. She presented with microcephaly, divergent strabismus, mouth breathing, clinodactyly, scoliosis and hypertrichosis. Brain MRI showed bilateral encephaloclastic lesions in temporal cortex and insula. Audiometry described left mild deafness. Heterozygous mutation c2803c> T (p.Gln935X) in exon 15 of CREBBP gene was found on her and was absent in parents. She is currently on methylphenidate and risperidone, attends mainstream school with extra support and receives speech therapy. Comments: Intellectual disability and physical clues raised the hypothesis of RTS. c2803c>T (p.Gln935X) CREBBP mutation is reported for the first time in association with RST.