Christensen, Maria B;
Levy, Amanda M;
Mohammadi, Nazanin A;
Niceta, Marcello;
Kaiyrzhanov, Rauan;
Dentici, Maria Lisa;
Alam, Chadi Al;
... Tümer, Zeynep; + view all
(2022)
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clinical Genetics
, 102
(2)
pp. 98-109.
10.1111/cge.14165.
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Magrinelli_Clinical Genetics - 2022 - Christensen - Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.pdf Download (9MB) | Preview |
Abstract
Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Missense variants may give a milder phenotype by changing the local structure of ZF motifs as suggested by protein modelling; but this correlation should be validated in larger cohorts and pathogenicity of the missense variants should be investigated with functional studies. Clinical features of the 35 individuals suggest that biallelic ZNF142 variants lead to a syndromic neurodevelopmental disorder with mild to moderate ID, varying degrees of delay in language and gross motor development, early onset seizures, hypotonia, behavioral features, movement disorders, and facial dysmorphism. The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the previous cohorts, which underlines the importance of larger cohorts for the phenotype descriptions of rare genetic disorders.
| Type: | Article |
|---|---|
| Title: | Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder |
| Location: | Denmark |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/cge.14165 |
| Publisher version: | https://doi.org/10.1111/cge.14165 |
| Language: | English |
| Additional information: | Copyright © 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | ZNF142, epilepsy, intellectual disability, language impairement, movement disorder, neurodevelopmental disorder |
| UCL classification: | UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10149455 |
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