TY  - JOUR
IS  - 2
Y1  - 2022/08//
A1  - Christensen, Maria B
A1  - Levy, Amanda M
A1  - Mohammadi, Nazanin A
A1  - Niceta, Marcello
A1  - Kaiyrzhanov, Rauan
A1  - Dentici, Maria Lisa
A1  - Alam, Chadi Al
A1  - Alesi, Viola
A1  - Benoit, Valérie
A1  - Bhatia, Kailash P
A1  - Bierhals, Tatjana
A1  - Boßelmann, Christian M
A1  - Buratti, Julien
A1  - Callewaert, Bert
A1  - Ceulemans, Berten
A1  - Charles, Perrine
A1  - De Wachter, Matthias
A1  - Dehghani, Mohammadreza
A1  - D'haenens, Erika
A1  - Doco-Fenzy, Martine
A1  - Geßner, Michaela
A1  - Gobert, Cyrielle
A1  - Guliyeva, Ulviyya
A1  - Haack, Tobias B
A1  - Hammer, Trine B
A1  - Heinrich, Tilman
A1  - Hempel, Maja
A1  - Herget, Theresia
A1  - Hoffmann, Ute
A1  - Horvath, Judit
A1  - Houlden, Henry
A1  - Keren, Boris
A1  - Kresge, Christina
A1  - Kumps, Candy
A1  - Lederer, Damien
A1  - Lermine, Alban
A1  - Magrinelli, Francesca
A1  - Maroofian, Reza
A1  - Mehrjardi, Mohammad Yahya Vahidi
A1  - Moudi, Mahdiyeh
A1  - Müller, Amelie J
A1  - Oostra, Anna J
A1  - Pletcher, Beth A
A1  - Ros-Pardo, David
A1  - Samarasekera, Shanika
A1  - Tartaglia, Marco
A1  - Van Schil, Kristof
A1  - Vogt, Julie
A1  - Wassmer, Evangeline
A1  - Winkelmann, Juliane
A1  - Zaki, Maha S
A1  - Zech, Michael
A1  - Lerche, Holger
A1  - Radio, Francesca Clementina
A1  - Gomez-Puertas, Paulino
A1  - Møller, Rikke S
A1  - Tümer, Zeynep
PB  - Wiley
N2  - 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 The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the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.
VL  - 102
ID  - discovery10149455
SN  - 0009-9163
N1  - 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.
JF  - Clinical Genetics
EP  - 109
AV  - public
SP  - 98
UR  - https://doi.org/10.1111/cge.14165
KW  - ZNF142
KW  -  epilepsy
KW  -  intellectual disability
KW  -  language impairement
KW  -  movement disorder
KW  -  neurodevelopmental disorder
TI  - Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
ER  -