ArticleAmerican journal of medical genetics. Part A2013
An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Diversity of molecular karyotypes of 234 pediatric patients with autism spectrum disorder in chromosomal microarray analysis.BMC psychiatry · 2026Article
- A multi-omic approach implicates novel protein dysregulation in post-traumatic stress disorder.Genome medicine · 2025Article
- The Risk Genes for Neuropsychiatric DisordersGenes · 2024Article
- Review
- Identification of recurrent 3q13.31 chromosomal rearrangement indicatesInternational journal of oncology · 2023Article
- Article
- Clustering by phenotype and genome-wide association study in autism.Translational psychiatry · 2020Article
- Recovery from Autism after Successful Surgery for a Benign Brain Tumor Associated with Epilepsy.Journal of autism and developmental disorders · 2019Article
- A Proteomic Screen of Neuronal Cell-Surface Molecules Reveals IgLONs as Structurally Conserved Interaction Modules at the Synapse.Structure (London, England : 1993) · 2019Article
- Anti-IgLON 5 Disease.Current treatment options in neurology · 2018Review
- Loss of opioid binding protein/cell adhesion molecule-like gene expression in gastric cancer.Oncology letters · 2018Article
- WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk GeneMolecular neuropsychiatry · 2017Article
- Article
- Promoter-Specific Expression and Genomic Structure of IgLON Family Genes in Mouse.Frontiers in neuroscience · 2017Article
- Cellular investigations with human antibodies associated with the anti-IgLON5 syndrome.Journal of neuroinflammation · 2016Article
- Transcriptional profiles of pilocytic astrocytoma are related to their three different locations, but not to radiological tumor features.BMC cancer · 2015Article
- IgLON cell adhesion molecules are shed from the cell surface of cortical neurons to promote neuronal growth.The Journal of biological chemistry · 2015Article
- Association of NCAM1 polymorphisms with autism and parental age at conception in a Chinese Han population.Genetic testing and molecular biomarkers · 2014Article
- Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).Molecular cytogenetics · 2014Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
We report on a pedigree with a pair of brothers each with minor anomalies, developmental delay, and autistic-symptoms who share an unbalanced translocation (not detectable by karyotype). The unbalanced translocation involves a 7.1 Mb loss of the terminal portion of 10q, and a 4.2 Mb gain of 11q. One of the brothers also developed a cerebellar juvenile pilocytic astrocytoma. The father was found to be a balanced carrier and the couple had a previous miscarriage. We demonstrate that the breakpoint for the triplicated region from chromosome 11 is adjacent to two IgLON genes, namely Neurotrimin (NTM) and Opioid Binding Protein/Cell Adhesion Molecule-like (OPCML). These genes are highly similar neural cell adhesion molecules that have been implicated in synaptogenesis and oncogenesis, respectively. The children also have a 10q deletion and are compared to other children with the 10q deletion syndrome which generally does not involve autism spectrum disorders (ASDs) or cancer. Together these data support a role for NTM and OPCML in developmental delay and potentially in cancer susceptibility.
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