ArticleClinical genetics2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Article in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.Epilepsy currents · 2025Review
- Article
- Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.European journal of human genetics : EJHG · 2025Article
- Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling.Clinical genetics · 2025Article
- Cortex-SpecificThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.Nature genetics · 2024Article
- Updated understanding of the protein-DNA recognition code used by C2H2 zinc finger proteins.Current opinion in structural biology · 2024Review
- Genetic architecture of childhood speech disorder: a review.Molecular psychiatry · 2024Review
- A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.Molecular genetics & genomic medicine · 2023Review
- Focal Head Tremor andMovement disorders clinical practice · 2023Article
- Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.Clinical genetics · 2022Article
Corrections and comments
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Authors and funding
57 authors at 20 institutions in 15 countries.
Funding
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 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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