Affordable Access

Access to the full text

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome

Authors
  • Lei, Ming1, 2, 3
  • Mitsuhashi, Satomi2
  • Miyake, Noriko2
  • Ohta, Tohru4
  • Liang, Desheng1
  • Wu, Lingqian1
  • Matsumoto, Naomichi2
  • 1 Central South University, Center for Medical Genetics, School of Life Sciences, Changsha, China , Changsha (China)
  • 2 Yokohama City University Graduate School of Medicine, Department of Human Genetics, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan , Yokohama (Japan)
  • 3 China Astronaut Research and Training Center, Beijing, China , Beijing (China)
  • 4 Health Science University of Hokkaido, Institute of Health Science, Hokkaido, Japan , Hokkaido (Japan)
Type
Published Article
Journal
Journal of Human Genetics
Publisher
Springer Nature
Publication Date
Apr 15, 2019
Volume
64
Issue
7
Pages
647–652
Identifiers
DOI: 10.1038/s10038-019-0596-2
Source
Springer Nature
License
Yellow

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.

Report this publication

Statistics

Seen <100 times