Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

Yongming Sun, Robert D. Nicholls, Merlin G. Butler, Shinji Saitoh, Bryan E. Hainline, Catherine G. Palmer

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)517-524
Number of pages8
JournalHuman molecular genetics
Volume5
Issue number4
DOIs
StatePublished - Apr 1 1996

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ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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