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

DDD Study

Research output: Contribution to journalArticle (Academic Journal)peer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalEuropean Journal of Human Genetics
Early online date15 Jun 2018
DOIs
Publication statusE-pub ahead of print - 15 Jun 2018

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