An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene.

[kindler syndrome]

Kindler syndrome is an inherited skin condition that presents with blistering followed by photosensitivity and a progressive poikiloderma . The disorder results from mutations in the KIND 1 gene , 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 (C 468 X ) in exon 12 of the KIND 1 gene in his genomic DNA . This mutation has not been described previously but is similar to the 17 previously published KIND 1 mutations 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 in KIND 1 is also useful for genetic counselling in this family and in assessing carrier status in unaffected family members .