A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
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Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.
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CELF4 is important in developmental disorders, with deletions of 18q12.2 associated with autism spectrum disorder.
“This gene is important in developmental disorders, with deletions of the 18q12.2 region which encompass the gene associated with autism spectrum disorder.26”
From Bi-ancestral depression GWAS in the Million Veteran Program and meta-analysis in >1.2 million individuals highlight new therapeutic directions (2021) · cites this paper as [26]
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References 54 · Cited by 18
- Authors
- Gilling, M., Lauritsen, M. B., Møller, M., Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, H., Andersen, P. S., Mors, O., Rosenberg, T., Brøndum-Nielsen, K., Cotterill, R. M. J., Lundsteen, C., Ropers, H.-H., Ullmann, R., Bache, I., Tümer, Z., & Tommerup, N.
- Affiliations
- University of Copenhagen (DK)
- Aarhus University (DK)
- National Institute of Health Dr. Ricardo Jorge (PT)
- Unidade Local de Saúde de Coimbra (PT)
- Aarhus University Hospital (DK)
- Kennedy Center (DK)
- Technical University of Denmark (DK)
- Rigshospitalet (DK)
- Max Planck Society (DE)
- Corresponding author
- Gilling, Mette
- ORCID
- Venue
- European Journal of Human Genetics
- Published
- 2008-01-09
- Volume
- 16
- Issue
- 3
- Pages
- 312-319
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W2127139027
- Cited by
- 18
- References
- 54
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2023: 1 · 2021: 2 · 2018: 1 · 2017: 2 · 2016: 1 · 2013: 2 · 2012: 2
- FWCI
- 0.52
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- Max Planck Institute for Plasma Physics (submittedVersion)
- Technical University of Denmark, DTU Orbit (Technical University of Denmark, DTU) (submittedVersion)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion, other-oa)
- Funders
- Wellcome Trust
- National Research Foundation
- Danmarks Grundforskningsfond
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- 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
- Keywords
- autism spectrum disorder, childhood autism, de novo translocation, haploinsufficiency, brain gene expression
- MeSH terms
- Adult, Autistic Disorder, Child, Chromosomes, Human, Pair 18, Female, Humans, Myopia, Sequence Deletion, In Situ Hybridization, Reverse Transcriptase Polymerase Chain Reaction
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