Kindler syndrome: extension of FERMT1 mutational spectrum and natural history

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dc.contributor.author Has, Cristina
dc.contributor.author Castiglia, Daniele
dc.contributor.author Río, Marcela del
dc.contributor.author García Díez, Marta
dc.contributor.author Piccinni, Eugenia
dc.contributor.author Kiritsi, Dimitra
dc.contributor.author Kohlhase, Jürgen
dc.contributor.author Itin, Peter
dc.contributor.author Martin, Ludovic
dc.contributor.author Fischer, Judith
dc.contributor.author Zambruno, Giovanna
dc.contributor.author Bruckner-Tuderman, Leena
dc.date.accessioned 2014-06-02T12:49:12Z
dc.date.available 2014-06-02T12:49:12Z
dc.date.issued 2011-11
dc.identifier.bibliographicCitation Human mutation, Vol. 32, nº 11 (Nov. 2011), pp. 1204-1212
dc.identifier.issn 1059-7794
dc.identifier.uri http://hdl.handle.net/10016/18930
dc.description.abstract Mutations 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.
dc.description.sponsorship Contract 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 Heath
dc.format.extent 9
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Wiley-Blackwell
dc.rights © 2011 Wiley Periodicals Inc.
dc.subject.other FERMT1
dc.subject.other Epidermolysis bullosa
dc.subject.other Kindlin
dc.subject.other Poikiloderma
dc.subject.other Blister
dc.subject.other Fermitin
dc.subject.other Gene mutation
dc.title Kindler syndrome: extension of FERMT1 mutational spectrum and natural history
dc.type article
dc.relation.publisherversion http://dx.doi.org/10.1002/humu.21576
dc.subject.eciencia Medicina
dc.identifier.doi 10.1002/humu.21576
dc.rights.accessRights openAccess
dc.relation.projectID Comunidad de Madrid. S2010/BMD-2420/CELLCAM
dc.type.version acceptedVersion
dc.identifier.publicationfirstpage 1204
dc.identifier.publicationissue 11
dc.identifier.publicationlastpage 1212
dc.identifier.publicationtitle Human mutation
dc.identifier.publicationvolume 32
dc.identifier.uxxi AR/0000012146
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