caa a22 4500 397574207 CHVBK 20180308164850.0 cr unu---uuuuu 161202e199604 xx s 000 0 eng 10.1093/hmg/5.4.517 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.4.517 Breakage in the SNRPN Locus in a Balanced 46,XY,t(, ) Prader-Willi Syndrome Patient [Elektronische Daten] [Yongming Sun, Robert D. Nicholls, Merlin G. Butler, Shinji Saitoh, Bryan E. Hainline, Catherine G. Palmer, Yongming Sun, Robert D. Nicholls, Merlin G. Butler, Shinji Saitoh, Bryan E. Hainline, Catherine G. Palmer, Catherine G. Palmer] A patient with Prader-Willi syndrome (PWS) was found to carry a de novo balanced reciprocal translocation, t(15, 19)(q12;q13.41), which disrupted the small nuclear ribonucleoprotein N (SNRPN) locus. The translocation chromosome 15 was found to be paternal in origin. Uniparental disomy and abnormal DNA methylation were ruled out. The translocation breakpoint was found to have occurred between exon 0 (second exon) and 1 (third exon) of the SNRPN locus outside of the SmN open reading frame (ORF), which is intact. The transcriptional activities of ZNF127, IPW, PAR−1, and PAR-5 were detected with RT-PCR from fibroblasts of the patient, suggesting that these genes may not play a significant role in the PWS phenotype in this patient. Transcription from the first two exons and last seven exons of the SNRPN gene was also detected with RT-PCR; however, the complete mRNA (10 exons) was not detected. Thus, the PWS phenotype in the patient is likely to be the result of disruption of the SNRPN locus. © 1996 Oxford University Press Sun Yongming Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202-5251, USA aut Nicholls Robert D. Department of Genetics, Case Western Reserve University, and Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106, USA aut Butler Merlin G. , Nashville, TN, USA aut Saitoh Shinji Department of Genetics, Case Western Reserve University, and Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106, USA aut Hainline Bryan E. Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202-5251, USA aut Palmer Catherine G. Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202-5251, USA aut Palmer Catherine G. Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202-5251, USA Human Molecular Genetics Oxford University Press 5/4(1996-04), 517-524 0964-6906 5:4<517 1996 5 hmg https://doi.org/10.1093/hmg/5.4.517 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.4.517 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sun Yongming Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202-5251, USA aut NATIONALLICENCE 700 1- Nicholls Robert D. Department of Genetics, Case Western Reserve University, and Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106, USA aut NATIONALLICENCE 700 1- Butler Merlin G. , Nashville, TN, USA aut NATIONALLICENCE 700 1- Saitoh Shinji Department of Genetics, Case Western Reserve University, and Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106, USA aut NATIONALLICENCE 700 1- Hainline Bryan E. Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202-5251, USA aut NATIONALLICENCE 700 1- Palmer Catherine G. Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202-5251, USA aut NATIONALLICENCE 700 1- Palmer Catherine G. Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202-5251, USA NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/4(1996-04), 517-524 0964-6906 5:4<517 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford