Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum. Issue 7 (10th June 2016)

• Record Type: Journal Article
• Authors: Sellars, Elizabeth A.; Sullivan, Bonnie R.; Schaefer, G. Bradley
• Is Part Of: Clinical case reports. Volume 4:Issue 7(2016)
• Page Start: 696
• Page End: 698
• Publication Date: 2016-06-10
• Subjects: CREBBP -- EP300 -- Rubinstein–Taybi syndrome -- whole exome sequencing; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.598
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.