| Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. | |
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MedLine Citation:
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PMID: 20847697 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but it is now apparent that these form a continuum of clinical findings and differ only in phenotypic severity. It is currently estimated that approximately 50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrome harbor mutations in the COL5A1 and the COL5A2 gene, encoding the α1 and the α2-chain of type V collagen, respectively. However, because no prospective molecular studies of COL5A1 and COL5A2 have been performed in a clinically well-defined patient group, this number may underestimate the real proportion of patients with classic Ehlers-Danlos syndrome harboring a mutation in one of these genes. In the majority of patients with molecularly characterized classic Ehlers-Danlos syndrome, the disease is caused by a mutation leading to a nonfunctional COL5A1 allele and resulting in haploinsufficiency of type V collagen. A smaller proportion of patients harbor a structural mutation in COL5A1 or COL5A2, causing the production of a functionally defective type V collagen protein. Most mutations identified so far result in a reduced amount of type V collagen in the connective tissues available for collagen fibrillogenesis. Inter- and intrafamilial phenotypic variability is observed, but no genotype-phenotype correlations have been observed. No treatment for the underlying defect is presently available for Ehlers-Danlos syndrome. However, a series of preventive guidelines are applicable. |
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Authors:
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Fransiska Malfait; Richard J Wenstrup; Anne De Paepe |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: 12 ISSN: 1530-0366 ISO Abbreviation: Genet. Med. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-10-08 Completed Date: 2011-01-31 Revised Date: 2011-03-28 |
Medline Journal Info:
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Nlm Unique ID: 9815831 Medline TA: Genet Med Country: United States |
Other Details:
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Languages: eng Pagination: 597-605 Citation Subset: IM |
Affiliation:
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Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Collagen Type V
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genetics* Connective Tissue / physiopathology* Contusions Ehlers-Danlos Syndrome* / diagnosis, epidemiology, genetics, physiopathology, therapy Genotype Haploinsufficiency Humans Joint Instability Mutation Phenotype |
| Chemical | |
Reg. No./Substance:
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0/COL5A1 protein, human; 0/Collagen Type V |
| Comments/Corrections | |
Comment In:
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Genet Med. 2011 Jan;13(1):77; author reply 77-8
[PMID:
21217464
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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