RT Journal Article
T1 Kindler syndrome: extension of FERMT1 mutational spectrum and natural history
A1 Has, Cristina
A1 Castiglia, Daniele
A1 Río Nechaevsky, Marcela del
A1 García Díez, Marta
A1 Piccinni, Eugenia
A1 Kiritsi, Dimitra
A1 Kohlhase, Jürgen
A1 Itin, Peter
A1 Martin, Ludovic
A1 Fischer, Judith
A1 Zambruno, Giovanna
A1 Bruckner-Tuderman, Leena
AB 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.
PB Wiley-Blackwell
SN 1059-7794
YR 2011
FD 2011-11
LK https://hdl.handle.net/10016/18930
UL https://hdl.handle.net/10016/18930
LA eng
NO Contract grant sponsors: International Kindler Syndrome; The German Federal Ministryfor Education and Research; The Excellence Initiative of the German federal andstage government and Freiburg Institute for Advanced Studies, School of Life Sciences(to L.B.T); The Italian Ministry of Heath
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RD 1 may. 2024