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Revertant mosaicism due to second-site mutation in COL7A1 in patient with recessive dystrophic epidermolysis bullosa

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dc.affiliation.dptoUC3M. Departamento de Bioingenieríaes
dc.affiliation.grupoinvUC3M. Grupo de Investigación: Tissue Engineering and Regenerative Medicine (TERMeG)es
dc.contributor.authorPasmooij, Anna M. G.
dc.contributor.authorGarcía Díez, Marta
dc.contributor.authorEscámez Toledano, María José
dc.contributor.authorNijenhuis, A. Miranda
dc.contributor.authorAzon, Antoni
dc.contributor.authorCuadrado-Corrales, Natividad
dc.contributor.authorJonkman, Marcel F.
dc.contributor.authorRío Nechaevsky, Marcela del
dc.contributor.funderMinisterio de Ciencia e Innovación (España)es
dc.date.accessioned2021-11-03T10:31:29Z
dc.date.available2021-11-03T10:31:29Z
dc.date.issued2010-10
dc.description.abstractDespite the high incidence of revertant mosaicism (35%) in patients with the genetic skin disease epidermolysis bullosa (EB) due to correcting mutations in the genes COL17A1 and LAMB3, revertant mosaicism has not been described for COL7A1 until recently. Mutations in COL7A1 are responsible for the most devastating form of EB in adults, which is characterized by cocooned “mitten” deformities of the hands. This report shows in vivo reversion of an inherited COL7A1 mutation in a patient with recessive dystrophic EB who was homozygous for the frameshift mutation COL7A1:c.6527insC,p.2176FsX337. The patient exhibited a patch of clinically healthy revertant skin on her left forearm. The second-site mutation c.6528delT, which is present in revertant keratinocytes, resulted in correction of the reading frame. As the new CCC codon codes for the same amino acid proline as the wild-type codon CCT, the revertant cells expressed wild-type type VII collagen polypeptide, leading to restoration of skin function. We hypothesize that, on careful examination, revertant mosaicism might be found to be more common in patients with type VII collagen-deficient EB. Furthermore, the revertant keratinocytes might offer the possibility to explore cell-based therapeutic strategies, by culturing in vitro and subsequently grafting as part of bioengineered dermo-epidermal substitutes on affected skin.en
dc.description.sponsorshipThis work was supported by the Dutch Butterfly Child Foundation in the Netherlands, by INTRA/08/714.1 from CIBERER, and by SAF2007-61019 from MICINN in Spain.en
dc.format.extent5
dc.identifier.bibliographicCitationPasmooij, A. M., Garcia, M., Escamez, M. J., Miranda Nijenhuis, A., Azon, A., Cuadrado-Corrales, N., Jonkman, M. F. & del Rio, M. (2010). Revertant Mosaicism Due to a Second-Site Mutation in COL7A1 in a Patient with Recessive Dystrophic Epidermolysis Bullosa. Journal of Investigative Dermatology, 130(10), pp. 2407–2411.en
dc.identifier.doihttps://doi.org/10.1038/jid.2010.163
dc.identifier.issn0022-202X
dc.identifier.publicationfirstpage2407
dc.identifier.publicationissue10
dc.identifier.publicationlastpage2411
dc.identifier.publicationtitleJournal of Investigative Dermatologyen
dc.identifier.publicationvolume130
dc.identifier.urihttps://hdl.handle.net/10016/33519
dc.identifier.uxxiAR/0000012917
dc.language.isoeng
dc.publisherElsevieren
dc.relation.projectIDGobierno de España. SAF2007-61019es
dc.rights© 2010 The Society for Investigative Dermatology, Inc. All rights reserved.en
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.rights.accessRightsopen accessen
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es/*
dc.subject.ecienciaBiología y Biomedicinaes
dc.titleRevertant mosaicism due to second-site mutation in COL7A1 in patient with recessive dystrophic epidermolysis bullosaen
dc.typeresearch article*
dc.type.hasVersionAM*
dspace.entity.typePublication
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