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Several mutations have been identified in DSPP and are associated with autosomal dominant hereditary disorders of dentine formation (OMIM 125420, 125490, 125500). These have included missense and nonsense mutations at the first 3 amino acid positions, splicing mutations leading to skipping of exon 3, and frameshift mutations in exon 5 that lead to long stretches of hydrophobic residues (PMIDs: 18456718, 11175779, 22521702, 19029076, 20949630). However, these mutations have been found to cause a dominant-negative effect by von Marschall et al (2012, PMID:22392858). Haploinsufficiency has not been shown to be mechanism for any reported mutations.
No focal duplications of DSPP have been reported.