Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

[kindler syndrome]

Kindler syndrome (OMIM 173650 ) is an autosomal recessive condition characterized by skin blistering , skin atrophy , photosensitivity , colonic inflammation and mucosal stenosis . Fewer than 100 cases have been described in the literature . First reported in 1954 , the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT 1 (KIND 1 ) loss -of-function mutations in affected individuals . The FERMT 1 gene encodes kindlin-1 (also known as fermitin family homologue 1 ), a 77 kDa protein that localizes at focal adhesions , where it plays an important role in integrin signalling . In the current study , we describe five novel and three recurrent loss -of-function FERMT 1 mutations in eight individuals with Kindler syndrome , and provide an overview of genotype-phenotype correlation in this disorder .