| Autor: |
Sethuraman, G., Fassihi, H., Ashton, G. H. S., Bansal, A., Kabra, M., Sharma, V. K., McGrath, J. A. |
| Předmět: |
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| Zdroj: |
Clinical & Experimental Dermatology; May2005, Vol. 30 Issue 3, p286-288, 3p |
| Abstrakt: |
Kindler syndrome is an inherited skin condition that presents with blistering followed by photosensitivity and a progressive poikiloderma. The disorder results from mutations in theKIND1gene, encoding the protein kindlin-1, a recently characterized 677-amino acid protein involved in anchorage of the actin cytoskeleton to the extracellular matrix. We report the clinical features of an 11-year-old boy with Kindler syndrome from a consanguineous Indian family and the identification of a homozygous nonsense mutation (C468X) in exon 12 of theKIND1gene in his genomic DNA. This mutation has not been described previously but is similar to the 17 previously publishedKIND1mutations that are all predicted to lead to loss of kindlin-1 protein expression and function. The clinical features in this boy highlight the relevance of kindlin-1 in skin biology, specifically to epidermal adhesion and response to acute and chronic sun exposure. Delineation of this new pathogenic mutation inKIND1is also useful for genetic counselling in this family and in assessing carrier status in unaffected family members. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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