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© 1994 Oxford University Press

OTHER

Molecular genetic analysis of the 3p — syndrome

Maude E. Phipps, Farida Latif1, Amanda Prowse, Stewart J. Payne2, Jeanne Dietz-Band3, Margaret Leversha, Nabeel A. Affara, Anthony T. Moore4, John Tolmie5, Albert Schinzel6, Michael I. Lerman1, Malcolm A. Ferguson-Smith and Eamonn R. Maher*

Cambridge University Department of Pathology, Addenbrooke's Hospital Hills Road, Cambridge CB2 2QQ, UK 1Laboratory of Immunobiology, National Cancer Institute, Frederick Cancer Facility Frederick, MD, USA 2Molecular Genetics Laboratory, Addenbrooke's Hospital Cambridge, UK 3Oncor Inc 209 Perry Parkway, Gaithersberg, MD 20877, USA 4Department of Ophthalmology, Addenbrooke's Hospital Cambridge 5Duncan Guthrie Institute of Medical Genetics Glasgow, UK 6Institute of Medical Genetics, University of Zurich Switzerland

*To whom correspondence should be addressed

Received January 31, 1994; Revised March 22, 1994; Accepted March 22, 1994

Molecular genetic analysis of five cases of 3p-syndrome (del(3)(qter-p25:)) was performed to investigate the relationship between the molecular pathology and clinical phenotype. Fluorescence in situ hybridization studies and analysis of polymorphic DNA markers from chromosome 3p25–p26 demonstrated that all four informative cases had distal deletions. However, the extent of the deletion was variable: in two patients with the most extensive deletions the deletion breakpoint mapped between RAF1 and D3S1250, in one patient the deletion breakpoint was between D3S1250 and D3S601, and in two patients the deletion commenced telomeric to D3S601 (and telomeric to D3S1317 in one of these). All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype. The three patients with the most extensive deletions had cardiac septal defects suggesting that a gene involved in normal cardiac development is contained in the interval D3S1250 and D3S18. The PMCA2 gene is contained within this region and deletion of this gene may cause congenital heart defects. At least three patients were deleted for the von Hippel - Lindau (VHL) disease gene although none had yet developed evidence of VHL disease. We conclude that molecular analysis of 3p- syndrome patients enhances the management of affected patients by identifying those at risk for VHL disease, and can be used to elucidate the critical regions for the 3p- syndrome phenotype.


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