ArticleAmerican journal of human genetics2016
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
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Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed.
- A tti1 mutation in the Tel2-Tti1-Tti2 complex specifically eliminates the cellular function of Rad3ATR, but not that of other PIKKs in fission yeast.PLoS genetics · 2026Article
- Lennox-Gastaut syndrome in a patient with biallelic TELO2 variants.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- TELO2 mediates parabens-induced breast carcinogenesis: a comprehensive network analysis.BMC pharmacology & toxicology · 2025Article
- A region on chromosome 16 is associated with Doberman Pinscher dilated cardiomyopathy.Scientific reports · 2024Article
- Comparative Transcriptomics Data Profiling Reveals E2F Targets as an Important Biological Pathway Overexpressed in Intellectual Disability Disorder.Bioinformatics and biology insights · 2024Article
- Genome-scale mapping of DNA damage suppressors through phenotypic CRISPR-Cas9 screens.Molecular cell · 2023Article
- TTT (Tel2-Tti1-Tti2) Complex, the Co-Chaperone of PIKKs and a Potential Target for Cancer Chemotherapy.International journal of molecular sciences · 2023Review
- Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.American journal of human genetics · 2023Article
- Novel compound heterozygous mutations inOpen life sciences · 2023Article
- VpdC is a ubiquitin-activated phospholipase effector that regulatesProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.HGG advances · 2022Article
- Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.Molecular genetics and metabolism · 2022Article
- Systems genetics in the rat HXB/BXH family identifies Tti2 as a pleiotropic quantitative trait gene for adult hippocampal neurogenesis and serum glucose.PLoS genetics · 2022Article
- Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report).Case reports in genetics · 2022Article
- Article
- Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.BMC neurology · 2020Article
- The genetics of intellectual disability: advancing technology and gene editing.F1000Research · 2020Review
- Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset.Journal of advanced research · 2019Article
- A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.Clinical genetics · 2019Article
- Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.Frontiers in genetics · 2019Article
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Authors and funding
15 authors.
Jing YouPredoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Nara L SobreiraMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Dustin L GablePredoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Julie JurgensPredoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Dorothy K GrangeDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Newell BelnapTranslational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Ashley SiniardTranslational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Szabolcs SzelingerTranslational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Isabelle SchrauwenTranslational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Ryan F RichholtTranslational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Stephanie E ValleeDartmouth-Hitchcock Medical Center, 1 Medical Center Dr., Lebanon, NH 03756, USA.
Mary Beth P DinulosDartmouth-Hitchcock Medical Center, 1 Medical Center Dr., Lebanon, NH 03756, USA; Pediatrics and Pathology Department, Geisel School of Medicine at Dartmouth, 1 Medical Center Dr., Lebanon, NH 03756, USA.
David ValleMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: dvalle@jhmi.edu.
Mary ArmaniosMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Julie Hoover-FongMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Funding
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007309 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI COX, ANDREA L · 1985 to 2019
$43.2MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MPredoctoral Training Program in Human GeneticsT32GM007814 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 1985 to 2021
$10.6MPostdoctoral Medical Genetics Training GrantT32GM007471 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI TAO WANG · 1985 to 2026
$8.0MTranslational Neuroscience CoreU54HD079123 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI FATEMI, S. ALI, SCHLAGGAR, BRADLEY L · 2014 to 2019
$7.9MVisual Science Training ProgramT32EY007143 · NEI · JOHNS HOPKINS UNIVERSITY · PI Laura Ensign, JEREMY NATHANS · 1995 to 2026
$6.2MThe Role of Telomere Shortening in MDS-AML Pathogenesis (resubmission)R01CA160433 · NCI · JOHNS HOPKINS UNIVERSITY · PI ARMANIOS, MARY Y · 2012 to 2016
$1.7MNCI NIH HHS R01 CA160433NEI NIH HHS T32 EY007143NHGRI NIH HHS U54 HG006542NICHD NIH HHS U54 HD079123NIGMS NIH HHS T32 GM007309NIGMS NIH HHS T32 GM007471NIGMS NIH HHS T32 GM007814
Abstract
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.
Indexed as
AdolescentCarrier ProteinsChildFemaleHumansIntellectual DisabilityIntracellular Signaling Peptides and ProteinsMaleMolecular ChaperonesPedigreePhosphatidylinositol 3-KinasesProtein Serine-Threonine KinasesTelomere-Binding ProteinsCarrier ProteinsIntracellular Signaling Peptides and ProteinsMolecular ChaperonesPhosphatidylinositol 3-KinasesProtein Serine-Threonine KinasesTelomere-Binding ProteinsTti1 protein, humanTTI2 protein, human
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.