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De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family.
Eur J Oral Sci. 2009 Dec; 117(6):691-4.EJ

Abstract

Dentinogenesis imperfecta (DGI) type II is one of the most common dominantly inherited dentin defects, in which both the primary and permanent teeth are affected. Here, we report a Japanese family with autosomal-dominant DGI type II, including both molecular genetic defects and pathogenesis with histological analysis. Mutation analysis revealed a mutation (c.53T>A, p.V18D, g.1192T>A) involving the second nucleotide of the first codon within exon 3 of the dentin sialophosphoprotein (DSPP) gene. This mutation has previously been reported in a Korean family. Thus far, 24 allelic DSPP mutations have been reported, and this is the seventh mutation involving the DSPP V18 residue. Among those, only one other was shown to be caused by a de novo mutation, and that mutation also affected the V18 amino acid residue. The DSPP V18 residue is highly conserved among other mammalian species. These findings thus suggest that the V18 amino acid might be a sensitive mutational hot spot, playing a critical role in the pathogenesis of DGI.

Authors+Show Affiliations

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20121932

Citation

Kida, Miyuki, et al. "De Novo Mutation in the DSPP Gene Associated With Dentinogenesis Imperfecta Type II in a Japanese Family." European Journal of Oral Sciences, vol. 117, no. 6, 2009, pp. 691-4.
Kida M, Tsutsumi T, Shindoh M, et al. De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. Eur J Oral Sci. 2009;117(6):691-4.
Kida, M., Tsutsumi, T., Shindoh, M., Ikeda, H., & Ariga, T. (2009). De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. European Journal of Oral Sciences, 117(6), 691-4. https://doi.org/10.1111/j.1600-0722.2009.00683.x
Kida M, et al. De Novo Mutation in the DSPP Gene Associated With Dentinogenesis Imperfecta Type II in a Japanese Family. Eur J Oral Sci. 2009;117(6):691-4. PubMed PMID: 20121932.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. AU - Kida,Miyuki, AU - Tsutsumi,Tomonori, AU - Shindoh,Masanobu, AU - Ikeda,Hisami, AU - Ariga,Tadashi, PY - 2010/2/4/entrez PY - 2010/2/4/pubmed PY - 2010/5/5/medline SP - 691 EP - 4 JF - European journal of oral sciences JO - Eur J Oral Sci VL - 117 IS - 6 N2 - Dentinogenesis imperfecta (DGI) type II is one of the most common dominantly inherited dentin defects, in which both the primary and permanent teeth are affected. Here, we report a Japanese family with autosomal-dominant DGI type II, including both molecular genetic defects and pathogenesis with histological analysis. Mutation analysis revealed a mutation (c.53T>A, p.V18D, g.1192T>A) involving the second nucleotide of the first codon within exon 3 of the dentin sialophosphoprotein (DSPP) gene. This mutation has previously been reported in a Korean family. Thus far, 24 allelic DSPP mutations have been reported, and this is the seventh mutation involving the DSPP V18 residue. Among those, only one other was shown to be caused by a de novo mutation, and that mutation also affected the V18 amino acid residue. The DSPP V18 residue is highly conserved among other mammalian species. These findings thus suggest that the V18 amino acid might be a sensitive mutational hot spot, playing a critical role in the pathogenesis of DGI. SN - 1600-0722 UR - https://www.unboundmedicine.com/medline/citation/20121932/De_novo_mutation_in_the_DSPP_gene_associated_with_dentinogenesis_imperfecta_type_II_in_a_Japanese_family_ L2 - https://doi.org/10.1111/j.1600-0722.2009.00683.x DB - PRIME DP - Unbound Medicine ER -