ArticleMolecular syndromology2010
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.
Article in Molecular syndromology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Comprehensive gene- and pathway-based analysis of depressive symptoms in older adults.Journal of Alzheimer's disease : JAD · 2015Pooled it
- Two polygenic mouse models of major depressive disorders identify TMEM161B as a potential biomarker of disease in humans.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
- LRFN5 and OLFM4 as novel potential biomarkers for major depressive disorder: a pilot study.Translational psychiatry · 2023Article
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
- LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.Autism research : official journal of the International Society for Autism Research · 2022Article
- Multimodal profiling of the transcriptional regulatory landscape of the developing mouse cortex identifies Neurog2 as a key epigenome remodeler.Nature neuroscience · 2022Article
- Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families.Genes · 2021Article
- Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.Genes · 2020Article
- Identification of novel common variants associated with chronic pain using conditional false discovery rate analysis with major depressive disorder and assessment of pleiotropic effects of LRFN5.Translational psychiatry · 2019Article
- Structural basis of trans-synaptic interactions between PTPδ and SALMs for inducing synapse formation.Nature communications · 2018Article
- Structural basis of SALM5-induced PTPδ dimerization for synaptic differentiation.Nature communications · 2018Article
- SALM/Lrfn Family Synaptic Adhesion Molecules.Frontiers in molecular neuroscience · 2018Review
- Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder.Scientific reports · 2017Article
- SALM4 suppresses excitatory synapse development by cis-inhibiting trans-synaptic SALM3-LAR adhesion.Nature communications · 2016Article
- Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.European journal of human genetics : EJHG · 2016Article
- SALM5 trans-synaptically interacts with LAR-RPTPs in a splicing-dependent manner to regulate synapse development.Scientific reports · 2016Article
- Splicing-Dependent Trans-synaptic SALM3-LAR-RPTP Interactions Regulate Excitatory Synapse Development and Locomotion.Cell reports · 2015Article
- Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2015Article
- Proper migration and axon outgrowth of zebrafish cranial motoneuron subpopulations require the cell adhesion molecule MDGA2A.Biology open · 2015Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a 19-year-old severely autistic and mentally retarded girl, a balanced de novo t(14;21)(q21.1;p11.2) translocation was found in addition to a de novo 2.6-Mb 2q31.1 deletion containing 15 protein-encoding genes. To investigate if the translocation might contribute to developmental stagnation at the age of 2 years with later regression of skills, i.e. a more severe phenotype than expected from the 2q31.1 deletion, the epigenetic status and expression of genes proximal and distal to the 14q21.1 breakpoint were investigated in Ebstein Barr Virus-transformed lymphoblast and primary skin fibroblast cells. The 14q21.1 breakpoint was found to be located between a cluster of 7 genes 0.1 Mb upstream, starting with FBXO33, and the single and isolated LRFN5 gene 2.1 Mb downstream. Only expression of LRFN5 appeared to be affected by its novel genomic context. In patient fibroblasts, LRFN5 expression was 10-fold reduced compared to LRFN5 expressed in control fibroblasts. In addition, a relative increase in trimethylated histone H3 lysine 9 (H3K9M3)-associated DNA starting exactly at the translocation breakpoint and going 2.5 Mb beyond the LRFN5 gene was found. At the LRFN5 promoter, there was a distinct peak of trimethylated histone H3 lysine 27 (H3K27M3)-associated DNA in addition to a diminished trimethylated histone H3 lysine 4 (H3K4M3) level. We speculate that dysregulation of LRFN5, a postsynaptic density-associated gene, may contribute to the patient's autism, even though 2 other patients with 14q13.2q21.3 deletions that included LRFN5 were not autistic. More significantly, we have shown that translocations may influence gene expression more than 2 Mb away from the translocation breakpoint.
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