title: Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.
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.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis 46202-5251, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Sun
authors.forename: R D
authors.initials: RD
authors.lastname: Nicholls
authors.forename: M G
authors.initials: MG
authors.lastname: Butler
authors.forename: S
authors.initials: S
authors.lastname: Saitoh
authors.forename: B E
authors.initials: BE
authors.lastname: Hainline
authors.forename: C G
authors.initials: CG
authors.lastname: Palmer
mesh_terms: D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D002888:Chromosomes, Human, Pair 19; D004247:DNA; D004249:DNA Damage; D017931:DNA Primers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008745:Methylation; D008969:Molecular Sequence Data; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012313:RNA; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics*; D014178:Translocation, Genetic; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D017931:DNA Primers; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins; D012313:RNA; D004247:DNA