A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in anIranian Family with Kindler Syndrome

Abstract Background:􀀃􀀮􀁌􀁑􀁇􀁏􀁈􀁕􀀃􀁖􀁜􀁑􀁇􀁕􀁒􀁐􀁈􀀃􀀋􀀮􀀶􀀌􀀃􀁌􀁖􀀃􀁄􀁑􀀃􀁄􀁘􀁗􀁒􀁖􀁒􀁐􀁄􀁏􀀃􀁕􀁈􀁆􀁈􀁖􀁖􀁌􀁙􀁈􀀃􀁖􀁎􀁌􀁑􀀃􀁇􀁌􀁖􀁈􀁄􀁖􀁈􀀃􀁆􀁋􀁄􀁕􀁄􀁆􀁗􀁈􀁕􀁌􀁝􀁈􀁇􀀃􀁅􀁜􀀃􀁄􀁆􀁗􀁘􀁄􀁏􀀃􀁅􀁏􀁌􀁖􀁗􀁈􀁕􀁌􀁑􀁊􀀏􀀃􀁓􀁋􀁒􀁗􀁒􀁖􀁈􀁑􀁖􀁌􀁗􀁌􀁙􀁌􀁗􀁜􀀃􀁄􀁑􀁇􀀃􀁄􀀃 progressive poikiloderma. The disorder results from rare mutations in the KIND1 gene. This gene contains 15 exons and expresses two kindlin-1 isoforms. Objective: The aim of this investigation was to analyze mutations in the exons 1 to 15 of KIND1 gene in an Iranian family clinically affected with Kindler syndrome. Methods: The mutations analysis of 15 coding exons of KIND1􀀃􀁊􀁈􀁑􀁈􀀃􀁚􀁄􀁖􀀃􀁓􀁈􀁕􀁉􀁒􀁕􀁐􀁈􀁇􀀃􀁚􀁌􀁗􀁋􀀃􀀳􀀦􀀵􀀐􀀶􀀶􀀦􀀳􀀃􀁄􀁑􀁇􀀃􀁇􀁌􀁕􀁈􀁆􀁗􀀃􀁖􀁈􀁔􀁘􀁈􀁑􀁆􀁌􀁑􀁊􀀃􀁌􀁑􀀃􀀔􀀗􀀃􀁖􀁘􀁅- jects from one Iranian family clinically affected with Kindler syndrome. Results: 􀀺􀁈􀀃􀁌􀁇􀁈􀁑􀁗􀁌􀂿􀁈􀁇􀀃􀁈􀁌􀁊􀁋􀁗􀀃􀁑􀁈􀁚􀀃􀁑􀁘􀁆􀁏􀁈􀁒􀁗􀁌􀁇􀁈􀀃􀁆􀁋􀁄􀁑􀁊􀁈􀁖􀀃􀁌􀁑􀀃KIND1􀀃􀁌􀁑􀀃􀁗􀁋􀁌􀁖􀀃􀁉􀁄􀁐􀁌􀁏􀁜􀀑􀀃􀀷􀁋􀁈􀁖􀁈􀀃􀁆􀁋􀁄􀁑􀁊􀁈􀁖􀀃􀁚􀁈􀁕􀁈􀀃􀁉􀁒􀁘􀁑􀁇􀀃􀁌􀁑􀀃􀁊􀀑􀀖􀀛􀀜􀀕􀁇􀁈􀁏􀀤􀀏􀀃􀁊􀀑􀀖􀀜􀀘􀀔􀀷􀀡􀀦􀀏􀀃 􀁊􀀑􀀖􀀜􀀙􀀕􀀷􀀡􀀪􀀏􀀃􀁊􀀑􀀗􀀔􀀜􀀓􀀪􀀡􀀷􀀏􀀃􀁊􀀑􀀚􀀗􀀜􀀚􀀪􀀡􀀤􀀏􀀃􀁊􀀑􀀔􀀔􀀓􀀚􀀙􀀷􀀡􀀦􀀏􀀃􀁊􀀑􀀔􀀔􀀔􀀓􀀕􀀦􀀡􀀷􀀃􀁄􀁑􀁇􀀃􀁊􀀑􀀔􀀖􀀔􀀚􀀚􀀦􀀡􀀷􀀃􀁓􀁒􀁖􀁌􀁗􀁌􀁒􀁑􀁖􀀑􀀃􀀤􀁐􀁒􀁑􀁊􀀃􀁗􀁋􀁈􀁐􀀏􀀃􀁗􀁋􀁈􀀃􀁊􀀑􀀔􀀖􀀔􀀚􀀚􀀦􀀡􀀷􀀃􀁐􀁘􀁗􀁄􀁗􀁌􀁒􀁑􀀃􀁕􀁈􀁖􀁘􀁏􀁗- ing in the formation of a premature stop codon (Q226X) was detected only in seven affected family individuals as homozygous but was not present in 100 unrelated healthy controls. Conclusions: This study suggests that nonsense mutation may lead to incomplete and non-functional protein products and is pathogenic and has meaningful implications for the diagnosis of patients with Kindler syndrome.