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 language | English |
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Pages (from-to) | 1-6 |
Number of pages | 6 |
Journal | European Journal of Human Genetics |
Early online date | 15 Jun 2018 |
DOIs | |
Publication status | E-pub ahead of print - 15 Jun 2018 |