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Clinical and genetic aspects of ehlers-Danlos syndrome, classic type

(2010) GENETICS IN MEDICINE. 12(10). p.597-605
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Abstract
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 alpha 1 and the alpha 2-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. Genet Med 2010:12(10):597-605.
Keywords
collagen, Ehlers-Danlos syndrome classic type, COL5A1, COL5A2, genetics, SUBEPENDYMAL PERIVENTRICULAR HETEROTOPIAS, management, molecular testing, natural history, FILAMIN-A MUTATIONS, SYNDROME TYPES-I, V COLLAGEN, CONNECTIVE-TISSUE, CUTIS LAXA, COL5A1 HAPLOINSUFFICIENCY, PHENOTYPIC HETEROGENEITY, JOINT HYPERMOBILITY, NODULAR HETEROTOPIA

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Citation

Please use this url to cite or link to this publication:

Chicago
Malfait, Fransiska, Richard J Wenstrup, and Anne De Paepe. 2010. “Clinical and Genetic Aspects of ehlers-Danlos Syndrome, Classic Type.” Genetics in Medicine 12 (10): 597–605.
APA
Malfait, Fransiska, Wenstrup, R. J., & De Paepe, A. (2010). Clinical and genetic aspects of ehlers-Danlos syndrome, classic type. GENETICS IN MEDICINE, 12(10), 597–605.
Vancouver
1.
Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of ehlers-Danlos syndrome, classic type. GENETICS IN MEDICINE. 2010;12(10):597–605.
MLA
Malfait, Fransiska, Richard J Wenstrup, and Anne De Paepe. “Clinical and Genetic Aspects of ehlers-Danlos Syndrome, Classic Type.” GENETICS IN MEDICINE 12.10 (2010): 597–605. Print.
@article{1148762,
  abstract     = {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 alpha 1 and the alpha 2-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. Genet Med 2010:12(10):597-605.},
  author       = {Malfait, Fransiska and Wenstrup, Richard J and De Paepe, Anne},
  issn         = {1098-3600},
  journal      = {GENETICS IN MEDICINE},
  keywords     = {collagen,Ehlers-Danlos syndrome classic type,COL5A1,COL5A2,genetics,SUBEPENDYMAL PERIVENTRICULAR HETEROTOPIAS,management,molecular testing,natural history,FILAMIN-A MUTATIONS,SYNDROME TYPES-I,V COLLAGEN,CONNECTIVE-TISSUE,CUTIS LAXA,COL5A1 HAPLOINSUFFICIENCY,PHENOTYPIC HETEROGENEITY,JOINT HYPERMOBILITY,NODULAR HETEROTOPIA},
  language     = {eng},
  number       = {10},
  pages        = {597--605},
  title        = {Clinical and genetic aspects of ehlers-Danlos syndrome, classic type},
  url          = {http://dx.doi.org/10.1097/GIM.0b013e3181eed412},
  volume       = {12},
  year         = {2010},
}

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