@article{discovery10149455,
           month = {August},
            year = {2022},
          number = {2},
           pages = {98--109},
           title = {Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder},
       publisher = {Wiley},
          volume = {102},
            note = {Copyright {\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.},
         journal = {Clinical Genetics},
            issn = {0009-9163},
          author = {Christensen, Maria B and Levy, Amanda M and Mohammadi, Nazanin A and Niceta, Marcello and Kaiyrzhanov, Rauan and Dentici, Maria Lisa and Alam, Chadi Al and Alesi, Viola and Benoit, Val{\'e}rie and Bhatia, Kailash P and Bierhals, Tatjana and Bo{\ss}elmann, Christian M and Buratti, Julien and Callewaert, Bert and Ceulemans, Berten and Charles, Perrine and De Wachter, Matthias and Dehghani, Mohammadreza and D'haenens, Erika and Doco-Fenzy, Martine and Ge{\ss}ner, Michaela and Gobert, Cyrielle and Guliyeva, Ulviyya and Haack, Tobias B and Hammer, Trine B and Heinrich, Tilman and Hempel, Maja and Herget, Theresia and Hoffmann, Ute and Horvath, Judit and Houlden, Henry and Keren, Boris and Kresge, Christina and Kumps, Candy and Lederer, Damien and Lermine, Alban and Magrinelli, Francesca and Maroofian, Reza and Mehrjardi, Mohammad Yahya Vahidi and Moudi, Mahdiyeh and M{\"u}ller, Amelie J and Oostra, Anna J and Pletcher, Beth A and Ros-Pardo, David and Samarasekera, Shanika and Tartaglia, Marco and Van Schil, Kristof and Vogt, Julie and Wassmer, Evangeline and Winkelmann, Juliane and Zaki, Maha S and Zech, Michael and Lerche, Holger and Radio, Francesca Clementina and Gomez-Puertas, Paulino and M{\o}ller, Rikke S and T{\"u}mer, Zeynep},
             url = {https://doi.org/10.1111/cge.14165},
        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.},
        keywords = {ZNF142, epilepsy, intellectual disability, language impairement, movement disorder, neurodevelopmental disorder}
}