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Human Molecular Genetics, 2001, Vol. 10, No. 3 201-210
© 2001 Oxford University Press

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

Jutta Wirth1,+, Elke Back2, Alexander Hüttenhofer3, Hans-Gerd Nothwang1,§, Christina Lich4, Stephanie Groß4, Corinna Menzel1, Albert Schinzel5, Petra Kioschis6, Niels Tommerup7, Hans-Hilger Ropers1, Bernhard Horsthemke4,¶ and Karin Buiting4

1Max-Planck Institut für Molekulare Genetik, Berlin, Germany, 2Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany, 3Institut für Experimentelle Pathologie/Molekulare Neurobiologie, Universität Münster, Münster, Germany, 4Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany, 5Institut für Medizinische Genetik, Zürich, Switzerland, 6Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany and 7Department of Medical Genetics, Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen, Denmark

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.

+ Present address: Entwicklungsbiologie und Molekulare Pathologie, Universität Bielefeld, Bielefeld, Germany

§ Present address: Sinnes- und Entwicklungs-Neurobiologie, Universität Kaiserslautern, Kaiserslautern, Germany

To whom correspondence should be addressed. Tel: +49 201 723 4556; Fax: +49 201 723 5900; Email: b.horsthemke@uni-essen.de


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