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Kindler syndrome: extension of FERMT1 mutational spectrum and natural history

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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.authorHas, Cristina
dc.contributor.authorCastiglia, Daniele
dc.contributor.authorRío Nechaevsky, Marcela del
dc.contributor.authorGarcía Díez, Marta
dc.contributor.authorPiccinni, Eugenia
dc.contributor.authorKiritsi, Dimitra
dc.contributor.authorKohlhase, Jürgen
dc.contributor.authorItin, Peter
dc.contributor.authorMartin, Ludovic
dc.contributor.authorFischer, Judith
dc.contributor.authorZambruno, Giovanna
dc.contributor.authorBruckner-Tuderman, Leena
dc.date.accessioned2014-06-02T12:49:12Z
dc.date.available2014-06-02T12:49:12Z
dc.date.issued2011-11
dc.description.abstractMutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. Herein we review the clinical and genetic data of 62 patients, and delineate the natural history of the disorder, for example, age at onset of symptoms, or risk of malignancy. Although most mutations are predicted to lead to premature termination of translation, and to loss of kindlin-1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications. Nevertheless, the clinical variability is not fully explained by genotype-phenotype correlations. Environmental factors and yet unidentified modifiers may play a role. Better understanding of the molecular pathogenesis of KS should enable the development of prevention strategies for disease complications.en
dc.description.sponsorshipContract grant sponsors: International Kindler Syndrome; The German Federal Ministry for Education and Research; The Excellence Initiative of the German federal and stage government and Freiburg Institute for Advanced Studies, School of Life Sciences (to L.B.T); The Italian Ministry of Heathen
dc.format.extent9es
dc.format.mimetypeapplication/pdf
dc.identifier.bibliographicCitationHuman mutation, Vol. 32, nº 11 (Nov. 2011), pp. 1204-1212en
dc.identifier.doi10.1002/humu.21576
dc.identifier.issn1059-7794
dc.identifier.publicationfirstpage1204es
dc.identifier.publicationissue11es
dc.identifier.publicationlastpage1212es
dc.identifier.publicationtitleHuman mutationen
dc.identifier.publicationvolume32es
dc.identifier.urihttps://hdl.handle.net/10016/18930
dc.identifier.uxxiAR/0000012146
dc.language.isoengen
dc.publisherWiley-Blackwellen
dc.relation.projectIDComunidad de Madrid. S2010/BMD-2420/CELLCAMes
dc.relation.publisherversionhttp://dx.doi.org/10.1002/humu.21576es
dc.rights© 2011 Wiley Periodicals Inc.en
dc.rights.accessRightsopen accesses
dc.subject.ecienciaMedicinaes
dc.subject.otherFERMT1es
dc.subject.otherEpidermolysis bullosaen
dc.subject.otherKindlinen
dc.subject.otherPoikilodermaen
dc.subject.otherBlisteren
dc.subject.otherFermitinen
dc.subject.otherGene mutationen
dc.titleKindler syndrome: extension of FERMT1 mutational spectrum and natural historyen
dc.typeresearch article*
dc.type.hasVersionAM*
dspace.entity.typePublication
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