Open AccessWhole exome sequencing reveals EP 300 mutation in mildly affected female: expansion of the spectrum
Author(s) -
Sellars Elizabeth A.,
Sullivan Bonnie R.,
Schaefer G. Bradley
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.598
Subject(s) - exome sequencing , rubinstein–taybi syndrome , medicine , mutation , exome , phenotype , dna sequencing , genetics , whole genome sequencing , gene , biology , genome , dermatology
Key Clinical Message Rubinstein–Taybi syndrome is associated with intellectual and physical features. CREBBP and EP 300 are causative. Few cases of EP 300 mutations are reported. We report a case with mild features of RSTS and EP 300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype.