ArticleEuropean journal of human genetics : EJHG2014
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 53 citations in OpenAlex.
- Article
- Identification of De NovoInternational journal of pediatrics · 2026Article
- Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.Human genetics · 2024Article
- A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.Neurogenetics · 2023Article
- Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly.iScience · 2023Article
- The mouse model of intellectual disability by ZBTB18/RP58 haploinsufficiency shows cognitive dysfunction with synaptic impairment.Molecular psychiatry · 2023Article
- Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.Molecular cytogenetics · 2022Article
- Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.Journal of neurochemistry · 2022Review
- Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effects.Molecular psychiatry · 2022Article
- Genetic heterogeneity in corpus callosum agenesis.Frontiers in genetics · 2022Review
- RP58 Represses Transcriptional Programs Linked to Nonneuronal Cell Identity and Glioblastoma Subtypes in Developing Neurons.Molecular and cellular biology · 2021Article
- Case Report: Identification of aFrontiers in genetics · 2021Article
- Mapping the Global Chromatin Connectivity Network for Sox2 Function in Neural Stem Cell Maintenance.Cell stem cell · 2019Article
- Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.Journal of pediatric genetics · 2019Article
- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome medicine · 2019Article
- The Role ofFrontiers in genetics · 2019Article
- Article
- Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.Molecular genetics & genomic medicine · 2018Article
- Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.Molecular cytogenetics · 2018Article
- Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Human genetics · 2017Article
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10 authors at 5 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
The phenotype of patients with a chromosome 1q43q44 microdeletion (OMIM; 612337) is characterized by intellectual disability with no or very limited speech, microcephaly, growth retardation, a recognizable facial phenotype, seizures, and agenesis of the corpus callosum. Comparison of patients with different microdeletions has previously identified ZBTB18 (ZNF238) as a candidate gene for the 1q43q44 microdeletion syndrome. Mutations in this gene have not yet been described. We performed exome sequencing in a patient with features of the 1q43q44 microdeletion syndrome that included short stature, microcephaly, global developmental delay, pronounced speech delay, and dysmorphic facial features. A single de novo non-sense mutation was detected, which was located in ZBTB18. This finding is consistent with an important role for haploinsufficiency of ZBTB18 in the phenotype of chromosome 1q43q44 microdeletions. The corpus callosum is abnormal in mice with a brain-specific knock-out of ZBTB18. Similarly, most (but not all) patients with the 1q43q44 microdeletion syndrome have agenesis or hypoplasia of the corpus callosum. In contrast, the patient with a ZBTB18 point mutation reported here had a structurally normal corpus callosum on brain MRI. Incomplete penetrance or haploinsufficiency of other genes from the critical region may explain the absence of corpus callosum agenesis in this patient with a ZBTB18 point mutation. The findings in this patient with a mutation in ZBTB18 will contribute to our understanding of the 1q43q44 microdeletion syndrome.
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