Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
Open Access
- 1 April 1996
- journal article
- case report
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 5 (4) , 517-524
- https://doi.org/10.1093/hmg/5.4.517
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.Keywords
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