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Bramswig, N.C.* ; Lüdecke, H.J.* ; Pettersson, M.* ; Albrecht, B.* ; Bernier, R.A.* ; Cremer, K.* ; Eichler, E.E.* ; Falkenstein, D.* ; Gerdts, J.* ; Jansen, S.* ; Kuechler, A.* ; Kvarnung, M.* ; Lindstrand, A.* ; Nilsson, D.* ; Nordgren, A.* ; Pfundt, R.* ; Spruijt, L.* ; Surowy, H.M.* ; de Vries, B.* ; Wieland, T. ; Engels, H.* ; Strom, T.M. ; Kleefstra, T.* ; Wieczorek, D.*

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Hum. Genet. 136, 179-192 (2017)
Research data DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised function of members of the ubiquitin pathway leads to a wide range of human diseases, such as cancer, neurodegenerative diseases, and neurodevelopmental disorders. Mutations in the thyroid hormone receptor interactor 12 (TRIP12) gene (OMIM 604506), which encodes an E3 ligase in the ubiquitin pathway, have been associated with autism spectrum disorder (ASD). In addition to autistic features, TRIP12 mutation carriers showed intellectual disability (ID). More recently, TRIP12 was postulated as a novel candidate gene for intellectual disability in a meta-analysis of published ID cohorts. However, detailed clinical information characterizing the phenotype of these individuals was not provided. In this study, we present seven novel individuals with private TRIP12 mutations including two splice site mutations, one nonsense mutation, three missense mutations, and one translocation case with a breakpoint in intron 1 of the TRIP12 gene and clinically review four previously published cases. The TRIP12 mutation-positive individuals presented with mild to moderate ID (10/11) or learning disability [intelligence quotient (IQ) 76 in one individual], ASD (8/11) and some of them with unspecific craniofacial dysmorphism and other anomalies. In this study, we provide detailed clinical information of 11 TRIP12 mutation-positive individuals and thereby expand the clinical spectrum of the TRIP12 gene in non-syndromic intellectual disability with or without ASD.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Thyroid-hormone Receptor; E3 Ubiquitin Ligase; Spectrum Disorder; Genes; Mutations; Risk
Language english
Publication Year 2017
Prepublished in Year 2016
HGF-reported in Year 2016
ISSN (print) / ISBN 0340-6717
e-ISSN 1432-1203
Journal Human Genetics
Quellenangaben Volume: 136, Issue: 2, Pages: 179-192 Article Number: , Supplement: ,
Publisher Springer
Publishing Place New York
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
DOI 10.1007/s00439-016-1743-x
WOS ID WOS:000393822400004
Scopus ID 84995463467
PubMed ID 27848077
Erfassungsdatum 2016-12-01
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