The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene
Abstract
The 16p13.3 breakpoints of two de novo translocations of chromosome 16, t(1;16) and t(14;16), were shown by initial mapping studies to have physically adjacent breakpoints. The translocations were ascertained in patients with abnormal phenotypes characterized by predominant epilepsy in one patient and mental retardation in the other. Distamycin/DAPI banding showed that the chromosome 1 breakpoint of the t(1;16) was in the pericentric heterochromatin therefore restricting potential gene disruption to the 16p13.3 breakpoint. The breakpoints of the two translocations were localized to a region of 3.5 and 115 kb respectively and were approximately 900 kb apart. The mapping was confirmed by fluorescence in situ hybridization (FISH) of clones that spanned the breakpoints to metaphase spreads derived from the patients. The mapping data showed both translocations disrupted the ataxin-2-binding protein 1 ( A2BP1) gene that encompasses a large genomic region of 1.7 Mb. A2BP1 encodes a protein that is known to interact with the spinocerebellar ataxia type 2 ( SCA2) protein. It is proposed that disruption of the A2BP1 gene is a cause of the abnormal phenotype of the two patients. Ninety-six patients with sporadic epilepsy and 96 female patients with mental retardation were screened by SSCP for potential mutations of A2BP1. No mutations were found, suggesting that disruption of the A2BP1 gene is not a common cause of sporadic epilepsy or mental retardation.
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“Combined with neuro-developmental defects observed in cell cultures (Kim et al., 2013), animal models (Gehman et al., 2012; Gehman et al., 2011; Kim et al., 2013), and human patients (Bhalla et al., 2004) where Rbfox proteins are disrupted, this presents a compelling case for Rbfox proteins playing critical roles in driving the global dynamic change of the developmentalsplicing-regulatory program.”
From HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism (2014) · cites this paper as Bhalla et al., 2004
In the citing paper
“Human mutations in RBFOX1 have been identified in patients with epilepsy126–128”
From The neurogenetics of alternative splicing (2016) · cites this paper as [126]
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Metadata
- Authors
- Bhalla, K., Phillips, H. A., Crawford, J., McKenzie, O. L. D., Mulley, J. C., Eyre, H., Gardner, A. E., Kremmidiotis, G., & Callen, D. F.
- Affiliations
- Women's and Children's Hospital (AU)
- South Australia Pathology (AU)
- Corresponding author
- Callen, David F.
- Venue
- Journal of Human Genetics
- Published
- 2004-05-18
- Volume
- 49
- Issue
- 6
- Pages
- 308-311
- ISSN
- 1434-5161 (ISSN-L)
- 1435-232X
- OpenAlex
- W2086863891
- Cited by
- 146
- References
- 6
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 5 · 2023: 4 · 2022: 6 · 2021: 3 · 2020: 10 · 2019: 6 · 2018: 10 · 2017: 8 · 2016: 11 · 2015: 6 · 2014: 12 · 2013: 12 · 2012: 6
- FWCI
- 1.79
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- gene disruption, epilepsy, intellectual disability, spinocerebellar ataxia type 2, pericentromeric heterochromatin, breakpoint mapping, fluorescence in situ hybridization
- MeSH terms
- Ataxins, RNA Splicing Factors, Adolescent, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 16, Epilepsy, Exons, Female, Humans, Introns, Male, Intellectual Disability, Models, Genetic, Mutation, Nerve Tissue Proteins, Phenotype, Proteins, Translocation, Genetic, RNA-Binding Proteins, In Situ Hybridization, Fluorescence, Polymorphism, Single-Stranded Conformational, Physical Chromosome Mapping
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