ArticleAmerican journal of human genetics2003
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 97 citations in OpenAlex.
- KnowYourCG: Facilitating base-level sparse methylome interpretation.Science advances · 2025Article
- Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2025Review
- The Role of Zinc in Developed Countries in Pediatric Patients: A 360-Degree View.Biomolecules · 2024Review
- 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
- Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.Clinical genetics · 2022Article
- A genome-wide methylation study reveals X chromosome and childhood trauma methylation alterations associated with borderline personality disorder.Translational psychiatry · 2021Article
- CFrontiers in neurology · 2020Review
- A novelOncology letters · 2016Article
- Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.Molecular cytogenetics · 2015Article
- METTL23, a transcriptional partner of GABPA, is essential for human cognition.Human molecular genetics · 2014Article
- Exome sequencing identifies three novel candidate genes implicated in intellectual disability.PloS one · 2014Article
- XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.American journal of human genetics · 2013Article
- Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.Molecular cytogenetics · 2012Article
- Article
- The genetic basis of non-syndromic intellectual disability: a review.Journal of neurodevelopmental disorders · 2010Article
- MicroRNA-181a modulates gene expression of zinc finger family members by directly targeting their coding regions.Nucleic acids research · 2010Article
- CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.European journal of human genetics : EJHG · 2010Article
- High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.Molecular psychiatry · 2010Article
- A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.Molecular cell · 2010Article
- Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.European journal of human genetics : EJHG · 2010Article
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Authors and funding
15 authors at 7 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nonsyndromic X-linked mental retardation (MRX) is defined by an X-linked inheritance pattern of low IQ, problems with adaptive behavior, and the absence of additional specific clinical features. The 13 MRX genes identified to date account for less than one-fifth of all MRX, suggesting that numerous gene defects cause the disorder in other families. In a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21), we have cloned the DNA fragment that contains the X-chromosomal and the autosomal breakpoint. In silico sequence analysis provided no indication of a causative role for the chromosome 7 breakpoint in mental retardation (MR), whereas, on the X chromosome, a zinc-finger gene, ZNF41, was found to be disrupted. Expression studies indicated that ZNF41 transcripts are absent in the patient cell line, suggesting that the mental disorder in this patient results from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of two other ZNF41 mutations that were not found in healthy control individuals. A proline-to-leucine amino acid exchange is present in affected members of one family with MRX. A second family carries an intronic splice-site mutation that results in loss of specific ZNF41 splice variants. Wild-type ZNF41 contains a highly conserved transcriptional repressor domain that is linked to mechanisms of chromatin remodeling, a process that is defective in various other forms of MR. Our results suggest that ZNF41 is critical for cognitive development; further studies aim to elucidate the specific mechanisms by which ZNF41 alterations lead to MR.
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