ArticleJournal of molecular psychiatry2016
De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ.
Article in Journal of molecular psychiatry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Pooled it
- White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.Clinical genetics · 2026Article
- CHAMP1 complex promotes heterochromatin assembly and reduces replication stress.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- CHAMP1 complex directs heterochromatin assembly and promotes homology-directed DNA repair.Nature communications · 2025Article
- A novel nonsense variant inHeliyon · 2024Article
- White-Sutton syndrome and congenital heart disease: case report and literature review.BMC pediatrics · 2023Review
- Loss of POGZ alters neural differentiation of human embryonic stem cells.Molecular and cellular neurosciences · 2022Article
- Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.Genes · 2022Article
- POGZ promotes homology-directed DNA repair in an HP1-dependent manner.EMBO reports · 2022Article
- Neuroimaging studies within Cognitive Genetics Collaborative Research Organization aiming to replicate and extend works of ENIGMA.Human brain mapping · 2022Review
- Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.Cell reports · 2021Article
- Article
- Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZMolecular brain · 2021Article
- Article
- Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).American journal of medical genetics. Part A · 2020Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA spontaneous de novo mutation is a new mutation appeared in a child that neither the parent carries. Recent studies suggest that recurrent de novo loss-of-function mutations identified in patients with sporadic autism spectrum disorder (ASD) play a key role in the etiology of the disorder. POGZ is one of the most recurrently mutated genes in ASD patients. Our laboratory and other groups have recently found that POGZ has at least 18 independent de novo possible loss-of-function mutations. Despite the apparent importance, these mutations have never previously been assessed via functional analysis.
methodsUsing wild-type, the Q1042R-mutated, and R1008X-mutated POGZ, we performed DNA-binding experiments for proteins that used the CENP-B box sequence in vitro. Data were statistically analyzed by one-way ANOVA followed by Tukey-Kramer post hoc tests.
resultsThis study reveals that ASD-associated de novo mutations (Q1042R and R1008X) in the POGZ disrupt its DNA-binding activity.
conclusionsHere, we report the first functional characterization of de novo POGZ mutations identified in sporadic ASD cases. These findings provide important insights into the cellular basis of ASD.
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