期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 98, 期 5, 页码 909-918出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2016.03.014
关键词
-
资金
- NHGRI [1U54HG006542, RO1CA160433]
- Commonwealth Foundation
- NIH [T32GM07814]
The proteins encoded by TELO2, TTI1, and TTI2 interact to form the TTT complex, a co-chaperone for maturation of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Here we report six affected individuals from four families with intellectual disability (ID) and neurological and other congenital abnormalities associated with compound heterozygous variants in TELO2. Although their fibroblasts showed reduced steady-state levels of TELO2 and the other components of the TTT complex, PIKK functions were normal in cellular assays. Our results suggest that these TELO2 missense variants result in loss of function, perturb TTT complex stability, and cause an autosomal-recessive syndromic form of ID.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据