publication . Article . 2007

unusual molecular findings in kindler syndrome

K. Arita; V. Wessagowit; A.C. Inamadar; A. Palit; H. Fassihi; J.E. Lai-Cheong; C. Pourreyron; A.P. South; J.A. McGrath;
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  • Published: 13 Sep 2007 Journal: British Journal of Dermatology, volume 157, pages 1,252-1,256 (issn: 0007-0963, eissn: 1365-2133, Copyright policy)
  • Publisher: Wiley
Abstract
Summary Kindler syndrome (KS) is a rare inherited skin disorder with blistering and poikiloderma as its main clinical features. It is caused by loss-of-function mutations in the C20orf42 (KIND1) gene which encodes kindlin-1, an actin cytoskeleton– focal contact-associated protein which is predominantly expressed in keratinocytes. We investigated the molecular basis of KS in a 16-year-old Indian boy who had additional clinical findings, including scleroatrophic changes of the hands and feet, pseudoainhum and early onset of squamous cell carcinoma on his foot. Immunostaining for kindlin-1 in the patient’s skin was completely absent and sequencing of C20orf42 (KIND...
Subjects
free text keywords: Actin cytoskeleton, Genetics, Biology, Kindler syndrome, medicine.disease, medicine, Genetic disorder, Epidermoid carcinoma, Pathology, medicine.medical_specialty, Mutation, medicine.disease_cause, Exon, Genodermatosis, Splice site mutation
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