Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense in codon 1175 of CREBBP

Abstrakt

Molecular studies of other cases of incomplete RTS or Rubinstein-like syndrome are warranted. Functional characterisation of CREBBP variants should help to determine whether phenotypes are caused by the partial loss of HAT activity, or by another disturbed function of the mutant CREBBP allele, and/or by modifying factor(s).

Klíčová slova

• transcriptional coactivator cbp
• binding protein
• histone acetyltransferases
• chromosome 16p13.3
• gene
• mutations
• mechanism
• acetylation
• inheritance
• modulation