Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.
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.
Sun
Y
Y
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis 46202-5251, USA.
Nicholls
R D
RD
Butler
M G
MG
Saitoh
S
S
Hainline
B E
BE
Palmer
C G
CG
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
D001324:Autoantigens; D017931:DNA Primers; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins; D012313:RNA; D004247:DNA