A prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa families

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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.
Iberian Peninsula, Founder effect, Pathogenic mutation, Spanish population, Epepidermolysis bullosa
Bibliographic citation
Cuadrado-Corrales, N., Sánchez-Jimeno, C., García, M., Escámez, M. J., Illera, N., Hernández-Martín, N., Trujillo-Tiebas, M. J., Ayuso, C. & del Rio, M. (2010). A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families. BMC Medical Genetics, 11(1), 139.