eprintid: 10149455 rev_number: 13 eprint_status: archive userid: 699 dir: disk0/10/14/94/55 datestamp: 2022-06-01 08:34:38 lastmod: 2022-07-12 11:36:21 status_changed: 2022-06-01 08:34:38 type: article metadata_visibility: show sword_depositor: 699 creators_name: Christensen, Maria B creators_name: Levy, Amanda M creators_name: Mohammadi, Nazanin A creators_name: Niceta, Marcello creators_name: Kaiyrzhanov, Rauan creators_name: Dentici, Maria Lisa creators_name: Alam, Chadi Al creators_name: Alesi, Viola creators_name: Benoit, Valérie creators_name: Bhatia, Kailash P creators_name: Bierhals, Tatjana creators_name: Boßelmann, Christian M creators_name: Buratti, Julien creators_name: Callewaert, Bert creators_name: Ceulemans, Berten creators_name: Charles, Perrine creators_name: De Wachter, Matthias creators_name: Dehghani, Mohammadreza creators_name: D'haenens, Erika creators_name: Doco-Fenzy, Martine creators_name: Geßner, Michaela creators_name: Gobert, Cyrielle creators_name: Guliyeva, Ulviyya creators_name: Haack, Tobias B creators_name: Hammer, Trine B creators_name: Heinrich, Tilman creators_name: Hempel, Maja creators_name: Herget, Theresia creators_name: Hoffmann, Ute creators_name: Horvath, Judit creators_name: Houlden, Henry creators_name: Keren, Boris creators_name: Kresge, Christina creators_name: Kumps, Candy creators_name: Lederer, Damien creators_name: Lermine, Alban creators_name: Magrinelli, Francesca creators_name: Maroofian, Reza creators_name: Mehrjardi, Mohammad Yahya Vahidi creators_name: Moudi, Mahdiyeh creators_name: Müller, Amelie J creators_name: Oostra, Anna J creators_name: Pletcher, Beth A creators_name: Ros-Pardo, David creators_name: Samarasekera, Shanika creators_name: Tartaglia, Marco creators_name: Van Schil, Kristof creators_name: Vogt, Julie creators_name: Wassmer, Evangeline creators_name: Winkelmann, Juliane creators_name: Zaki, Maha S creators_name: Zech, Michael creators_name: Lerche, Holger creators_name: Radio, Francesca Clementina creators_name: Gomez-Puertas, Paulino creators_name: Møller, Rikke S creators_name: Tümer, Zeynep title: Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ispublished: pub divisions: C07 divisions: F84 divisions: B02 divisions: UCL divisions: D07 keywords: ZNF142, epilepsy, intellectual disability, language impairement, movement disorder, neurodevelopmental disorder note: 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. 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. date: 2022-08 date_type: published publisher: Wiley official_url: https://doi.org/10.1111/cge.14165 oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 1958640 doi: 10.1111/cge.14165 lyricists_name: Magrinelli, Francesca lyricists_name: Kaiyrzhanov, Rauan lyricists_id: FMAGR76 lyricists_id: RKAIY23 actors_name: Magrinelli, Francesca actors_id: FMAGR76 actors_role: owner full_text_status: public publication: Clinical Genetics volume: 102 number: 2 pagerange: 98-109 event_location: Denmark issn: 0009-9163 citation: Christensen, Maria B; Levy, Amanda M; Mohammadi, Nazanin A; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Alam, Chadi Al; ... Tümer, Zeynep; + view all <#> Christensen, Maria B; Levy, Amanda M; Mohammadi, Nazanin A; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Alam, Chadi Al; Alesi, Viola; Benoit, Valérie; Bhatia, Kailash P; Bierhals, Tatjana; Boßelmann, Christian M; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, Perrine; De Wachter, Matthias; Dehghani, Mohammadreza; D'haenens, Erika; Doco-Fenzy, Martine; Geßner, Michaela; Gobert, Cyrielle; Guliyeva, Ulviyya; Haack, Tobias B; Hammer, Trine B; Heinrich, Tilman; Hempel, Maja; Herget, Theresia; Hoffmann, Ute; Horvath, Judit; Houlden, Henry; Keren, Boris; Kresge, Christina; Kumps, Candy; Lederer, Damien; Lermine, Alban; Magrinelli, Francesca; Maroofian, Reza; Mehrjardi, Mohammad Yahya Vahidi; Moudi, Mahdiyeh; Müller, Amelie J; Oostra, Anna J; Pletcher, Beth A; Ros-Pardo, David; Samarasekera, Shanika; Tartaglia, Marco; Van Schil, Kristof; Vogt, Julie; Wassmer, Evangeline; Winkelmann, Juliane; Zaki, Maha S; Zech, Michael; Lerche, Holger; Radio, Francesca Clementina; Gomez-Puertas, Paulino; Møller, Rikke S; Tümer, Zeynep; - view fewer <#> (2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical Genetics , 102 (2) pp. 98-109. 10.1111/cge.14165 <https://doi.org/10.1111/cge.14165>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10149455/3/Magrinelli_Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdf