A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa

13 páginas, 2 figuras.

Detalhes bibliográficos
Autores: Chuang, G. S., Martínez Mir, Amalia, Yu, H.-S., Sung, F.-Y., Chuang, R. Y., Cserhalmi-Friedman, P. B., Christiano, Angela M.
Formato: artículo
Fecha de publicación:2004
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/39336
Acesso em linha:http://hdl.handle.net/10261/39336
Access Level:acceso abierto
Palavra-chave:Collagen type VII
Epidermolysis bullosa dystrophica
Molecular sequence data
Mutation
Missense
COL7A1
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repository_id_str
spelling A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosaChuang, G. S.Martínez Mir, AmaliaYu, H.-S.Sung, F.-Y.Chuang, R. Y.Cserhalmi-Friedman, P. B.Christiano, Angela M.Collagen type VIIEpidermolysis bullosa dystrophicaMolecular sequence dataMutationMissenseCOL7A113 páginas, 2 figuras.Epidermolysis bullosa (EB) pruriginosa is a subtype of dominant dystrophic EB (DDEB), characterized by severe pruritus and blistering localized to the extensor surface of the extremities. EB pruriginosa exhibits extensive clinical heterogeneity with variable expression and delayed age of onset. Mutations in the COL7A1 gene, especially in glycine residues within Gly-X-Y repeats, have been shown to cause this form of DDEB. Here, we report a novel COL7A1 mutation in a Taiwanese pedigree with EB pruriginosa. Using PCR and direct sequence analysis we have identified a G→T transversion at nucleotide 7097 in exon 92 of COL7A1, converting a glycine residue to valine (G2366V). The mutation resides within a consecutive, uninterrupted stretch of 17 Gly-X-Y residues in the triple-helical domain of type VII collagen. Interestingly, an affected member of this family also displayed elevated IgE levels, previously reported in some patients with this disorder. Our finding further implicates COL7A1 mutation in the pathogenesis of EB pruriginosa and underscores the heterogeneous clinical symptoms of glycine mutations in DDEB.This work was supported in part by NIH R01 AR43602 (A.M.C) and R03 AR47184 (P.B.C). G.S.C. is a fellow of Howard Hughes Medical Institute-Medical Student Training Fellowship.Peer reviewedBlackwell Publishing201120112004info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501http://hdl.handle.net/10261/39336reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.1111/j.1365-2230.2004.01495.xinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/393362026-05-22T06:33:51Z
dc.title.none.fl_str_mv A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
title A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
spellingShingle A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
Chuang, G. S.
Collagen type VII
Epidermolysis bullosa dystrophica
Molecular sequence data
Mutation
Missense
COL7A1
title_short A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
title_full A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
title_fullStr A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
title_full_unstemmed A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
title_sort A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
dc.creator.none.fl_str_mv Chuang, G. S.
Martínez Mir, Amalia
Yu, H.-S.
Sung, F.-Y.
Chuang, R. Y.
Cserhalmi-Friedman, P. B.
Christiano, Angela M.
author Chuang, G. S.
author_facet Chuang, G. S.
Martínez Mir, Amalia
Yu, H.-S.
Sung, F.-Y.
Chuang, R. Y.
Cserhalmi-Friedman, P. B.
Christiano, Angela M.
author_role author
author2 Martínez Mir, Amalia
Yu, H.-S.
Sung, F.-Y.
Chuang, R. Y.
Cserhalmi-Friedman, P. B.
Christiano, Angela M.
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Collagen type VII
Epidermolysis bullosa dystrophica
Molecular sequence data
Mutation
Missense
COL7A1
topic Collagen type VII
Epidermolysis bullosa dystrophica
Molecular sequence data
Mutation
Missense
COL7A1
description 13 páginas, 2 figuras.
publishDate 2004
dc.date.none.fl_str_mv 2004
2011
2011
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/39336
url http://hdl.handle.net/10261/39336
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv http://dx.doi.org/10.1111/j.1365-2230.2004.01495.x
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Blackwell Publishing
publisher.none.fl_str_mv Blackwell Publishing
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,81155

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