ArticleJournal of human genetics2019
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 13 citations in OpenAlex.
- A Transcriptomic Signature of Depressive Symptoms in Late Life.Biological psychiatry global open science · 2025Article
- UsingRNA biology · 2023Article
- SnoRNA and lncSNHG: Advances of nucleolar small RNA host gene transcripts in anti-tumor immunity.Frontiers in immunology · 2023Review
- Analysis ofGenes · 2022Review
- A NovelJournal of pediatric genetics · 2022Article
- The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique HomozygousGenes · 2021Review
- Article
- 15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation.Case reports in medicine · 2021Article
- What can we learn from PWS and SNORD116 genes about the pathophysiology of addictive disorders?Molecular psychiatry · 2021Review
- Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.Journal of human genetics · 2020Article
- Construction of a lncRNA-miRNA-mRNA network to determine the regulatory roles of lncRNAs in psoriasis.Experimental and therapeutic medicine · 2019Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Prader-Willi syndrome (PWS) is a well-known imprinting disorder arising from a loss of paternally imprinted gene(s) at 15q11.2-q13. We report a typical PWS patient with a balanced reciprocal translocation, 46, XY, t(15;19)(q11.2;q13.3). After Illumina whole-genome sequencing, we used BreakDancer-1.45 software to predict candidate breakpoints and manually investigated via the Integrated Genome Viewer. Breakpoint PCR followed by Sanger sequencing determined the t(15;19) breakpoints. We investigated the expression of upstream/centromeric and downstream/telomeric genes of the 15q11.2 breakpoint by reverse transcriptase PCR, using total RNA extracted from the patient's lymphoblasts. Of note, the expression of paternally expressed genes PWAR6, SNORD109A/B, SNORD116, IPW, and PWAR1, downstream of the breakpoint, was abolished. Interestingly, the breakpoint did not destroy protein coding genes or individual snoRNAs. These results indicate that these genes may play a major role in the PWS phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.