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Eur J Hum Genet. 2018 Sep;26(9):1306-1311. doi: 10.1038/s41431-018-0199-y. Epub 2018 Jun 15.

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

Author information

1
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK. Ruth.Richardson7@nhs.net.
2
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK.
3
Bristol Regional Genetics Service, University Hospitals Bristol, Bristol, UK.
4
University of Bristol, Bristol, UK.
5
Merseyside and Cheshire Clinical Genetics Service, Liverpool, UK.

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.

PMID:
29907757
PMCID:
PMC6117329
DOI:
10.1038/s41431-018-0199-y
[Indexed for MEDLINE]
Free PMC Article

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