Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.

ABSTRACT: Rubinstein-Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype.

SUBMITTER: Sellars EA 

PROVIDER: S-EPMC4929809 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature