A study has documented a missense mutation (c.15C>T) in exon 2 of DSPP in a severe DGI-II Central American family, resulting in the substitution of leucine with alanine and potentially altering the structure of the signal peptide, leading to the occurrence of DGI (Malmgren et al., 2004). This evidence concerns the gene DSPP and dentinogenesis imperfecta.