与发育迟缓及智力障碍相关的新生移码变异。
SET de novo frameshift variants associated with developmental delay and intellectual disabilities.
机构信息
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK.
Bristol Regional Genetics Service, University Hospitals Bristol, Bristol, UK.
出版信息
Eur J Hum Genet. 2018 Sep;26(9):1306-1311. doi: 10.1038/s41431-018-0199-y. Epub 2018 Jun 15.
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.
摘要
通过发育障碍解析（DDD）研究进行的三例全外显子组测序发现了 3 名个体存在 Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) 基因的新生移码变异。SET 基因的变异以前没有被认为与人类发育障碍有关。在这里，我们报告了详细的表型信息，并提出 SET 是一个新的智力残疾/发育迟缓（ID/DD）基因。
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