| Abstrakt: |
Rubinstein-Taybi syndrome (RSTS), an autosomal-dominant neurodevelopmental disorder affecting 1 in 125,000 newborns, is characterized by intellectual disability, growth retardation, facial dysmorphisms, and skeletal abnormalities. RSTS results from mutations in epigenetic machinery genes: CREBBP (~60%) or its homologous EP300 (~10%). Up to 30% of patients lack identified causative mutations, complicating early diagnosis due to phenotypic overlap with other syndromes. Here, we report a new RSTS case in an infant with atypical presentation. Wholeexome sequencing at 20 months revealed a de novo heterozygous pathogenic variant in CREBBP, c.6067C>T (p.Gln2023*), establishing the diagnosis. This case introduces a new CREBBP gene variant, illustrating the broad clinical spectrum of Mendelian disorders of the epigenetic apparatus. High WES diagnostic rates emphasize its utility in cases with challenging phenotypes spanning distinct syndromes. [ABSTRACT FROM AUTHOR] |
