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© 1995 Oxford University Press

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome

Hermann-Josef Lüdecke*, Michael J.Wagner1, Judith Nardmann, Biagio La Pillo, Julia E.Parrish1,+, Patrick J.Willems2, Eric A.Haan3, Moshe Frydman4, Guus J.H.Hamers5, Dan E.Weils1 and Bernhard Horsthemke

Institut für Humangenetik, Universitätsklinikum, Hufelandstraβe 55 D-45122 Essen, Germany 1 Department of Biology and Institute for Molecular Biology, University of Houston, Houston TX 77204–5513, USA 2 Department of Medical Genetics, University of Antwerp-UIA Universiteitsplein 1, B-2610 Antwerp, Belgium 3 Centre for Medical Genetics, Women's and Children's Hospital North Adelaide, SA 5006, Australia 4 Institute of Human Genetics, The Chaim Sheba Medical Center Tel-Hashomer 52621, Israel 5 Stichting Klinische Genetica Limburg Beeldsnijdersdreef 101, NL-6216 EA Maastricht, The Netherlands

*To Whom correspondence should be addressed

Received September 8, 1994; Accepted November 8, 1994

The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities. It combines the clinical features of TRPS I and multiple cartilaginous exostoses (EXT). We have used YAC cloning, Southern blotting, PCR analysis, and fluorescence in situ hybridization to study chromosome 8 deletions, translocatlons, an inversion, and an Insertion in patients with TRPS I, TRPS II or EXT. Our results indicate that the TRPS gene maps more than 1,000 kb proximal to the EXT1 gene and that both genes are affected in TRPS II. We conclude that TRPS II is not due to pleiotropic effects of mutations in a single gene, but that it is a true contiguous gene syndrome.

+Present address: Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA


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