ArticleEuropean journal of human genetics : EJHG2013
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report.Case reports in genetics · 2026Article
- Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2025Review
- How hydrolytic exoribonucleases impact human disease: Two sides of the same story.FEBS open bio · 2023Review
- Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Article
- Genome plasticity ineLife · 2019Article
- Review
- LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.Human mutation · 2018Article
- Predicting human genes susceptible to genomic instability associated withGenome research · 2018Article
- Loss ofGenes & development · 2018Article
- 3' RNA Uridylation in Epitranscriptomics, Gene Regulation, and Disease.Frontiers in molecular biosciences · 2018Review
- Molecular basis for cytoplasmic RNA surveillance by uridylation-triggered decay in Drosophila.The EMBO journal · 2016Article
- Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Nucleic acids research · 2015Article
- Genome architecture and its roles in human copy number variation.Genomics & informatics · 2014Review
- Pseudoautosomal region 1 length polymorphism in the human population.PLoS genetics · 2014Article
- Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.PloS one · 2013Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Perlman syndrome is a rare, autosomal recessive overgrowth disorder. Recently, the deletion of exon 9 and other mutations of the DIS3L2 gene have been reported in patients; however, the mechanism behind this deletion is still unknown. We report the homozygous deletion of exon 9 of DIS3L2 in a Japanese patient with Perlman syndrome. We identified the deletion junction, and implicate a non-allelic homologous recombination (NAHR) between two LINE-1 (L1) elements as the causative mechanism. Furthermore, the deletion junctions were different between the paternal and maternal mutant alleles, suggesting the occurrence of two independent NAHR events in the ancestors of each parent. The data suggest that the region around exon 9 might be a hot spot of L1-mediated NAHR.
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