Cuadrado-Corrales, NatividadSanchez Jimeno, CarolinaGarcía Díez, MartaEscámez Toledano, María JoséIllera Esteban, NuriaHernandez Martin, Maria AngelaTrujillo-Tiebas, Maria JoseAyuso, CarmenRío Nechaevsky, Marcela del2021-11-032021-11-032010-09-29Cuadrado-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), 139.1471-2350https://hdl.handle.net/10016/33517Background: 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.7eng© 2010 Cuadrado-Corrales et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.Atribución 3.0 EspañaIberian PeninsulaFounder effectPathogenic mutationSpanish populationEpepidermolysis bullosaresearch articleBiología y Biomedicinahttps://doi.org/10.1186/1471-2350-11-139open access1391BMC Medical Genetics11AR/0000012914