SET de novo frameshift variants associated with developmental delay and intellectual disabilities

• DOI: 10.1038/s41431-018-0199-y
• Publication Date: 2018-06-15T11:19:40Z
• Authors: Ruth Richardson; Miranda Splitt; Ruth Newbury-Ecob; Alice Hulbert; Joanna Kennedy; Astrid Weber
• Keywords: Male; 0301 basic medicine; Adolescent; Developmental Disabilities; DNA-Binding Proteins; 03 medical and health sciences; Phenotype; Intellectual Disability; Humans; Female; Histone Chaperones; Child; Frameshift Mutation; Transcription Factors

Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to be associated with human developmental disorders. Here we report detailed phenotypic information and propose that SET is a new Intellectual Disability/Developmental Delay (ID/DD) gene.