Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.
Ehlers Danlos syndrome (EDS) comprises ten types. EDS IV is the most severe type because of its often lethal complications, such as arterial rupture. EDS IV is caused by an abnormality of collagen type III as a result of mutations in the corresponding gene COL3A1. A collagen type III abnormality is also seen in patients with EDS without the classical severe EDS IV phenotype. We report on 11 patients with type III collagen abnormality and normal collagen V in whom clinically EDS II, III, and IV were diagnosed. There is no correlation between the type of collagen III anomaly and the clinical phenotype. It is concluded that type III collagen abnormality may lead to a phenotypic spectrum and that it does not predict the severity and course of the disease.
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands. B.Hamel@antrg.azn.nl
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BC
Hamel
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Pals
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Engels
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van den Akker
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Boers
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van Dongen
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Steijlen
D000328:Adult; D002478:Cells, Cultured; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics / Q000378:metabolism*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged
D003094:Collagen