Abstract
Balanced translocations affecting the paternal copy of 15q11--q13 are a rare cause of Prader-Willi syndrome (PWS) or PWS-like features. Here we report on the cytogenetic and molecular characterization of a de novo balanced reciprocal translocation t(X;15)(q28;q12) in a female patient with atypical PWS. The translocation breakpoints in this patient and two previously reported patients map 70-80 kb distal to the SNURF-SNRPN gene and define a breakpoint cluster region. The breakpoints disrupt one of several hitherto unknown 3' exons of this gene. Using RT--PCR we demonstrate that sequences distal to the breakpoint, including the recently identified C/D box small nucleolar RNA (snoRNA) gene cluster HBII-85 as well as IPW and PAR1, are not expressed in the patient. Our data suggest that lack of expression of these sequences contributes to the PWS phenotype.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Alternative Splicing
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Autoantigens / genetics*
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Base Sequence
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Chromosome Banding
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Chromosome Breakage / genetics
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Chromosomes, Human, Pair 15 / genetics*
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Cytogenetic Analysis
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DNA / genetics
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DNA / metabolism
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DNA Methylation
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DNA, Complementary / chemistry
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DNA, Complementary / genetics
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Exons / genetics
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Female
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Gene Expression
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Humans
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In Situ Hybridization, Fluorescence
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Male
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Molecular Sequence Data
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Nuclear Proteins*
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Prader-Willi Syndrome / genetics
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Prader-Willi Syndrome / pathology
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Proteins / genetics*
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Ribonucleoproteins, Small Nuclear*
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Sequence Analysis, DNA
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Transcription, Genetic
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Translocation, Genetic*
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X Chromosome / genetics
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snRNP Core Proteins
Substances
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Autoantigens
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DNA, Complementary
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Nuclear Proteins
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Proteins
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Ribonucleoproteins, Small Nuclear
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SNRPN protein, human
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SNURF protein, human
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snRNP Core Proteins
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DNA
Associated data
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GENBANK/AF319522
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GENBANK/AF319523
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GENBANK/AF319524