ClinGen Dosage Sensitivity Curation Page

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  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

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.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No focal duplications of DSPP have been reported.