Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epitheliumKutsche K.a · Glauner E.a · Knauf S.a · Pomarino A.a · Schmidt M.a · Schröder B.a · Nothwang H.G.b · Schüler H.M.c · Goecke T.O.c · Kersten A.J.d · Althaus C.d · Gal A.a
aInstitut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg; bMax-Planck-Institut für Molekulare Genetik, Berlin; cInstitut für Humangenetik und Anthropologie der Heinrich-Heine-Universität, Düsseldorf; and dAugenklinik der Heinrich-Heine-Universität, Düsseldorf (Germany)
Mutations of various tumor suppressor genes, e.g., PTEN, TSC1, and TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor resembling neoplasia that results from faulty organ development. Combined hamartoma of the retinal pigment epithelium (RPE) and retina is a rare, congenital, focal malformation of the fundus. So far, no disease gene has been associated with this disorder. By molecular analysis of an apparently balanced and reciprocal translocation between the short arms of chromosomes 11 and 18, t(11;18)(p13;p11.31), in a patient with hamartoma of the RPE and retina, we selected PAC clones crossing the breakpoints on both derivative chromosomes 11 and 18. For the overlapping chromosome 11 clone, two EST clusters were identified, suggesting the existence of at least two genes in the breakpoint region. We constructed a PAC contig and showed that at least three exons of a novel gene map to the breakpoint region on chromosome 18. Based on the results of FISH analysis with the PAC clones of this contig, we suggest the occurrence of a complex rearrangement.
© 2001 S. Karger AG, Basel
Supported by a grant from the Deutsche Forschungsgemeinschaft (SFB444). H.G.N.’s present address is Sinnes- und Entwicklungs-Neurobiologie, Universität Kaiserslautern, Postfach 3049, D–67653 Kaiserslautern (Germany). H.M.S.’s present address is Institut für Humangenetik der RWTH Aachen, Pauwelsstrasse 30, D–52074 Aachen (Germany).
Received: Received 18 August 2000;
accepted 5 September 2000.
Number of Print Pages : 7
Number of Figures : 3, Number of Tables : 1, Number of References : 33
Cytogenetics and Cell Genetics
Founded 1962 as Cytogenetics by H.P. Klinger
Vol. 91, No. 1-4, Year 2000 (Cover Date: 2000)
Journal Editor: H.P. Klinger, Bronx, N.Y.; M. Schmid, Würzburg
ISSN: 0301–0171 (print), 1422–9816 (Online)
For additional information: http://www.karger.com/journals/ccg