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

被引：0

作者：

Ruth Richardson

Miranda Splitt

Ruth Newbury-Ecob

Alice Hulbert

Joanna Kennedy

Astrid Weber

机构：

[1] Northern Genetics Service,

[2] Newcastle upon Tyne Hospitals NHS Trust,undefined

[3] Bristol Regional Genetics Service,undefined

[4] University Hospitals Bristol,undefined

[5] University of Bristol,undefined

[6] Merseyside and Cheshire Clinical Genetics Service,undefined

[7] Wellcome Trust Sanger Institute,undefined

来源：

European Journal of Human Genetics | 2018年 / 26卷

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D O I：

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学科分类号：

摘要：

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.

引用

页码：1306 / 1311

页数：5

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