Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants

Klingberg, Sandra; Marr, Penelope; Murrell, Dédée F.

doi:10.1016/j.jdermsci.2007.02.006

Cited by 35 publications

(26 citation statements)

References 37 publications

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“…Slightly reduced staining (++) can result in either the RDEB-O with or without pseudosyndactyly phenotypes. Our data therefore confirm that the lower the amount of type VII collagen, the higher the chance of developing a more severe disease course [9,26,27,31]. It would of course be of major importance to parents of RDEB-O children to know whether their child will develop at late-onset a more severe course with dermogenic contractures and pseudosyndactyly or not.…”

Section: Phenotype-genotype Correlationssupporting

confidence: 78%

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

Akker

Essen

Kraak

et al. 2009

Journal of Dermatological Science

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Section: Phenotype-genotype Correlationssupporting

confidence: 78%

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

Akker

Essen

Kraak

et al. 2009

Journal of Dermatological Science

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“…The relative type VII collagen deposition at the basement membrane zone, and the number and ultra-structure of anchoring fibrils can be assessed by immunofluorescence (IF) and electron microscopy (EM) techniques, respectively. Genotype-phenotype correlation has been extensively studied for the major subtypes of DEB [Abu Sa'd et al, 2006;Almaani et al, 2011;Dang et al, 2007;Escámez et al, 2010;Fine et al, 2008;Gardella et al, 2002;Hovnanian et al, 1997;Jeřábková et al, 2010;Kern et al, 2006Kern et al, , 2009Ouragini et al, 2010;Salas-Alanis et al, 2000;Sawamura et al, 2005;Van den Akker et al, 2009;Varki et al, 2007]. These studies have revealed that severe generalized RDEB is generally caused by bi-allelic mutations that result in a premature termination codon (PTC) (i.e., nonsense mutations, frame-shifting deletions, insertions/duplications, indels, and certain splice-site mutations).…”

Section: Dystrophic Epidermolysis Bullosa and The Type VII Collagen Gmentioning

confidence: 99%

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

et al. 2011

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Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype-phenotype correlation rules have emerged, many exceptions to these rules exist, compromising disease diagnosing and genetic counseling. We therefore constructed the International DEB Patient Registry (http://www.deb-central.org), aimed at worldwide collection and sharing of phenotypic and genotypic information on DEB. As of May 2011, this MOLGENIS-based registry contains detailed information on 508 published and 71 unpublished patients and their 388 unique COL7A1 mutations, and includes all combinations of mutations. The current registry RDEB versus DDEB ratio of 4:1, if compared to prevalence figures, suggests underreporting of DDEB in the literature. Thirty-eight percent of mutations stored introduce a premature termination codon (PTC) and 43% an amino acid change. Submission wizards allow users to quickly and easily share novel information. This registry will be of great help in disease diagnosing and genetic counseling and will lead to novel insights, especially in the rare phenotypes of which there is often lack of understanding. Altogether, this registry will greatly benefit the DEB patients.

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“…Perhaps surprisingly, the nature ofthe pathogenic COL7AI mutations does not appear to differ from other forms of DEB (5-7, 9-15). Indeed, there are several examples of identical mutations in individuals from the same or different families resulting in either EBP or a more classical form of DEB (5,7,10,[13][14][15].In order to try to explain the phenotypic disparity, investigators have previously examined potential disease modifiers, including IgE levels, atopy, biochemical or endocrinological abnormalities, iron deficiency, and most recently, filaggrin mutations, but thus far no specific insight into the EBP phenotype has emerged (6-8,11, 16. 17).…”

mentioning

confidence: 99%

“…The inheritance of EBP is usually autosomal dominant, but may be recessive in some cases (4,(6)(7)(8). Perhaps surprisingly, the nature ofthe pathogenic COL7AI mutations does not appear to differ from other forms of DEB (5)(6)(7)(9)(10)(11)(12)(13)(14)(15). Indeed, there are several examples of identical mutations in individuals from the same or different families resulting in either EBP or a more classical form of DEB (5,7,10,(13)(14)(15).…”

mentioning

confidence: 99%

New Glycine Substitution Mutations in Type VII Collagen Underlying Epidermolysis Bullosa Pruriginosa but the Phenotype is not Explained by a Common Polymorphism in the Matrix Metalloproteinase-1 Gene Promoter

Almaani

Liu²,

Harrison³

et al. 2009

Acta Derm Venerol

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Epidermolysis bullosa (EB) pruriginosa is an unusual variant of dystrophic EB in which intense itching can lead to striking skin changes resembling acquired skin disorders such as nodular prurigo or hypertrophic lichen planus. The molecular pathology involves mutations in the COL7A1 gene, but the nature of the mutations is similar to those seen in other non-pruritic forms of dystrophic EB. The mechanism of the dramatic phenotypic differences is currently unknown. In this study we assessed the incidence of a common functional polymor-phism in the matrix metalloproteinase-1 gene promoter (1G or 2G at nucleotide -1607) in individuals with EB pruriginosa (n = 27) compared with non-itchy dominant dystrophic EB (n = 23), recessive dystrophic EB (n = 25) and normal controls (n = 50). The hypothesis is that the 2G allele, which was previously shown to increase matrix metalloproteinase-1 activity and lead to increased degradation of type VII collagen, could explain the phenotypic heterogeneity encountered in dominant forms of EB, particularly the itchy EB pruriginosa phenotype. The rationale is that increased type VII collagen degradation could trigger an inflammatory response leading to itchy skin characteristic of EB pruriginosa. All 27 individuals with EB pruriginosa were heterozygous for dominant-negative glycine substitution mutations in the COL7A1 gene, six of which have not been reported previously. The frequency of the 2G allele in these subjects (46.3%) was greater than in the controls (42.0%), but less than in non-itchy dominant dystrophic EB (52.2%) or recessive dystrophic EB (62.0%), indicating that variants of a common functional polymorphism in the matrix metalloproteinase-1 gene promoter do not account for the itchy skin phenotype. The pathophysiology of EB pruriginosa remains unexplained.

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Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants

Cited by 35 publications

References 37 publications

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

New Glycine Substitution Mutations in Type VII Collagen Underlying Epidermolysis Bullosa Pruriginosa but the Phenotype is not Explained by a Common Polymorphism in the Matrix Metalloproteinase-1 Gene Promoter

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