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

Elizabeth A Sellars; Bonnie R Sullivan; G Bradley Schaefer

doi:10.1002/ccr3.598

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

Clin Case Rep. 2016 Jun 10;4(7):696-8. doi: 10.1002/ccr3.598. eCollection 2016 Jul.

Authors

Elizabeth A Sellars¹, Bonnie R Sullivan², G Bradley Schaefer¹

Affiliations

¹ Section of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas.
² Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio.

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.

Keywords: CREBBP; EP300; Rubinstein–Taybi syndrome; whole exome sequencing.

Publication types

Case Reports