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Ehlers‐Danlos syndrome and type III collagen abnormalities: a variable clinical
Author(s) -
Hamel BCJ,
Pals G.,
Engels CHAM,
Akker E.,
Boers GHJ,
Dongen PWJ,
Steijlen PM
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02592.x
Subject(s) - abnormality , ehlers–danlos syndrome , phenotype , medicine , pathology , type i collagen , gastroenterology , endocrinology , gene , biology , genetics , psychiatry
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.