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

DDD Study

doi:10.1038/s41431-018-0199-y

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

DDD Study

Bristol Medical School (THS)

Research output: Contribution to journal › Article (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 language	English
Pages (from-to)	1-6
Number of pages	6
Journal	European Journal of Human Genetics
Early online date	15 Jun 2018
DOIs	https://doi.org/10.1038/s41431-018-0199-y
Publication status	E-pub ahead of print - 15 Jun 2018

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10.1038/s41431-018-0199-y

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title = "SET de novo frameshift variants associated with developmental delay and intellectual disabilities",

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.",

author = "{DDD Study} and Ruth Richardson and Miranda Splitt and Ruth Newbury-Ecob and Alice Hulbert and Joanna Kennedy and Astrid Weber",

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AU - DDD Study

AU - Richardson, Ruth

AU - Splitt, Miranda

AU - Newbury-Ecob, Ruth

AU - Hulbert, Alice

AU - Kennedy, Joanna

AU - Weber, Astrid

PY - 2018/6/15

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AB - 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.

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DO - 10.1038/s41431-018-0199-y

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