Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family

Telomere maintenance 2 (TELO2)–interacting protein 2 (TTI2) interacts with TTI1 and TELO2 to form the Triple T complex, which is required for various cellular processes, including the double-strand DNA break response, nonsense-mediated mRNA decay, and telomerase assembly. Herein, we identified compo...

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Bibliographic Details
Main Authors: Rongrong Wang, Shirui Han, Hongyan Liu, Amjad Khan, Habulieti Xiaerbati, Xue Yu, Jia Huang, Xue Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Genetics
Subjects:
intellectual disability
triple T complex
TTI2
pathogenic mutations
whole-exome sequencing
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01060/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.01060/full

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