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Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen |
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| Authors: | P Tsipouras P H Byers R C Schwartz Mon-Li Chu Dominique Weil Guglielmina Pepe Suzanne B Cassidy F Ramirez |
| Institution: | (1) Department of Pediatrics, UMDNJ-Rutgers Medical School, 08854 Piscataway, NJ, USA;(2) Department of Biochemistry, UMDNJ-Rutgers Medical School, 08854 Piscataway, NJ, USA;(3) Department of Obstetrics-Gynecology, UMDNJ-Rutgers Medical School, 08854 Piscataway, NJ, USA;(4) Department of Pathology, University of Washington, Seattle, Washington, USA;(5) Department of Medicine, University of Washington, Seattle, Washington, USA;(6) Center for Inherited Disease, University of Washington, Seattle, Washington, USA;(7) Department of Pediatrics, University of Connecticut, Farmington, Connecticut, USA;(8) Present address: Hôpital des Enfants Malades, Paris, France;(9) Present address: Department of Biology, University of Rome, Rome, Italy |
| Abstract: | Summary Ehlers-Danlos syndrome (EDS) type IV is a rare and catastrophic genetic disorder of the connective tissue. Individuals from two families with this disorder were studied for a restriction fragment length polymorphism (RFLP) associated with the COL3A1 gene. Our results suggested cosegregation of the EDS type IV phenotype with a COL3A1 RFLP allele. Biochemical studies in cultured skin fibroblasts indicated the presence of different mutations affecting the stability and secretion of the pro 1(III) chains of type III procollagen in the two families, thus suggesting that EDS type IV is biochemically heterogeneous. Our data demonstrated the feasibility of molecular diagnosis in this condition using COL3A1 gene related RFLPs. |
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