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Background  Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the  COL7A1  gene and characterized by blistering of the skin following a minimal friction or mechanical trauma.  The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor or as a result of a hotspot mutation. The aim of this study was to investigate the origin of the c.6527insC mutation.    Methods  Haplotypes were constructed by genotyping nine single nucleotides polymorphisms (SNPs) throughout the  COL7A1  gene. Haplotypes were determined in RDEB patients and control samples, both of Spanish origin.    Results  Sixteen different haplotypes were identified in our study. A single haplotype cosegregated with the c.6527insC mutation.    Conclusion  Haplotype analysis showed that all alleles carrying the c.6527insC mutation shared the same haplotype cosegregating with this mutation (  CCGCTCAAA_6527insC  ), thus suggesting the presence of a common ancestor.

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families