ArticleGenome medicine2016
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
Article in Genome medicine, 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.
- Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.Circulation. Genomic and precision medicine · 2023Pooled it
- Research Progress on the Role of Zinc Finger Protein in Colorectal Cancer.Cancer reports (Hoboken, N.J.) · 2025Review
- A pan-cancer analysis of the prognostic and immunological roles of zinc finger protein 514 in human tumors.Frontiers in oncology · 2025Article
- De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.American journal of medical genetics. Part A · 2024Article
- Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype.Genes · 2023Article
- The functional and evolutionary impacts of human-specific deletions in conserved elements.Science (New York, N.Y.) · 2023Article
- Exploring the diagnostic markers of essential tremor: A study based on machine learning algorithms.Open life sciences · 2023Article
- DNA methylation landscapes from pig's limbic structures underline regulatory mechanisms relevant for brain plasticity.Scientific reports · 2022Article
- Methylome-wide Association Study of Patients with Recent-onset Psychosis.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2022Article
- Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.Clinical genetics · 2022Article
- Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.Molecular syndromology · 2021Article
- Transcription factor expression as a predictor of colon cancer prognosis: a machine learning practice.BMC medical genomics · 2020Article
- CFrontiers in neurology · 2020Review
- Zfp281 (ZBP-99) plays a functionally redundant role with Zfp148 (ZBP-89) during erythroid development.Blood advances · 2019Article
- Outgroup Machine Learning Approach Identifies Single Nucleotide Variants in Noncoding DNA Associated with Autism Spectrum Disorder.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2019Article
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKrüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors. Only few ZNF genes are currently linked to human disorders and identification of ZNF gene-associated human diseases may help understand their function. Here we provide genetic, statistical, and clinical evidence to support association of ZNF148 with a new intellectual disability (ID) syndrome disorder.
methodsRoutine diagnostic exome sequencing data were obtained from 2172 patients with ID and/or multiple congenital anomalies.
resultsIn a cohort of 2172 patient-parent trios referred for routine diagnostic whole exome sequencing for ID and/or multiple congenital anomalies (MCA) in the period 2012-2016, four patients were identified who carried de novo heterozygous nonsense or frameshift mutations in the ZNF148 gene. This was the only ZNF gene with recurrent truncating de novo mutations in this cohort. All mutations resulted in premature termination codons in the last exon of ZNF148. The number of the de novo truncating mutations in the ZNF148 gene was significantly enriched (p = 5.42 × 10
conclusionsWe propose ZNF148 as a gene involved in a newly described ID syndrome with a recurrent phenotype and postulate that the ZNF148 is a hitherto unrecognized but crucial transcription factor in the development of the corpus callosum. Our study illustrates the advantage of whole exome sequencing in a large cohort using a parent-offspring trio approach for identifying novel genes involved in rare human diseases.
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