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Christensen, M.B.* ; Levy, A.M.* ; Mohammadi, N.A.* ; Niceta, M.* ; Kaiyrzhanov, R.* ; Dentici, M.L.* ; Al Alam, C.* ; Alesi, V.* ; Benoit, V.* ; Bhatia, K.P.* ; Bierhals, T.* ; Boßelmann, C.M.* ; Buratti, J.* ; Callewaert, B.* ; Ceulemans, B.* ; Charles, P.* ; De Wachter, M.* ; Dehghani, M.* ; D'haenens, E.* ; Doco-Fenzy, M.* ; Geßner, M.* ; Gobert, C.* ; Guliyeva, U.* ; Haack, T.B.* ; Hammer, T.B.* ; Heinrich, T.* ; Hempel, M.* ; Herget, T.* ; Hoffmann, U.* ; Horvath, J.* ; Houlden, H.* ; Keren, B.* ; Kresge, C.* ; Kumps, C.* ; Lederer, D.J.* ; Lermine, A.* ; Magrinelli, F.* ; Maroofian, R.* ; Vahidi Mehrjardi, M.Y.* ; Moudi, M.* ; Müller, A.J.* ; Oostra, A.J.* ; Pletcher, B.A.* ; Ros-Pardo, D.* ; Samarasekera, S.* ; Tartaglia, M.* ; Van Schil, K.* ; Vogt, J.* ; Wassmer, E.* ; Winkelmann, J. ; Zaki, M.S.* ; Zech, M. ; Lerche, H.* ; Radio, F.C.* ; Gómez-Puertas, P.* ; Møller, R.S.* ; Tümer, Z.*

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Clin. Genet. 102, 98-109 (2022)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
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 modeling; 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 The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Epilepsy ; Intellectual Disability ; Language Impairement ; Movement Disorder ; Neurodevelopmental Disorder ; Znf142
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Zeitschrift Clinical Genetics
Quellenangaben Band: 102, Heft: 2, Seiten: 98-109 Artikelnummer: , Supplement: ,
Verlag Wiley
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen Wellcome Trust
DFG FOR-2715
Edmond J. Safra Foundation
EU Horizon 2020
Italian Ministry of Health
Michael J. Fox Foundation
UCLH Biomedical Research Centre
Rosetrees Trust
SOLVE-RD
Spanish government grants RTC-2017-6494, RTI2018-094434-B-I00 (MCIU/AEI/FEDER, UE), DTS20-00024 (ISCIII)
the European JPIAMR network "EPIC-Alliance"
Wellcome Trust (WT093205MA, WT104033AIA and the Synaptopathies Strategic Award, 165908)
Medical Research Council