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Dentinogenesis imperfecta - Shield type I

MedGen UID:
120631
•Concept ID:
C0268357
•
Disease or Syndrome
Synonyms: OI, type 1A Osteogenesis imperfecta, type 1A; OI, type IA Osteogenesis imperfecta, type IA; OI1A Osteogenesis imperfecta 1A; Osteogenesis imperfecta with opalescent teeth; Osteogenesis imperfecta, type 1, with dentinogenesis imperfecta; Osteogenesis imperfecta, type 1A; Osteogenesis Imperfecta, Type I, with Dentinogenesis Imperfecta
SNOMED CT: Dentinogenesis imperfecta - Shield's type I (234968002); Dentinogenesis imperfecta with osteogenesis imperfecta (234968002); Opalescent teeth with osteogenesis imperfecta (234968002); Osteogenesis imperfecta type IA (64404003)

Recent clinical studies

Etiology

The Modified Shields Classification and 12 Families with Defined DSPP Mutations.
Simmer JP, Zhang H, Moon SJH, Donnelly LA, Lee YL, Seymen F, Koruyucu M, Chan HC, Lee KY, Wu S, Hsiang CL, Tsai ATP, Slayton RL, Morrow M, Wang SK, Shields ED, Hu JC
Genes (Basel) 2022 May 12;13(5) doi: 10.3390/genes13050858. PMID: 35627243Free PMC Article

Diagnosis

The Modified Shields Classification and 12 Families with Defined DSPP Mutations.
Simmer JP, Zhang H, Moon SJH, Donnelly LA, Lee YL, Seymen F, Koruyucu M, Chan HC, Lee KY, Wu S, Hsiang CL, Tsai ATP, Slayton RL, Morrow M, Wang SK, Shields ED, Hu JC
Genes (Basel) 2022 May 12;13(5) doi: 10.3390/genes13050858. PMID: 35627243Free PMC Article
Dentin dysplasia type I-A dental disease with genetic heterogeneity.
Chen D, Li X, Lu F, Wang Y, Xiong F, Li Q
Oral Dis 2019 Mar;25(2):439-446. Epub 2018 Apr 10 doi: 10.1111/odi.12861. PMID: 29575674Free PMC Article
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.
de La Dure-Molla M, Philippe Fournier B, Berdal A
Eur J Hum Genet 2015 Apr;23(4):445-51. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.159. PMID: 25118030Free PMC Article
Hereditary opalescent dentin: a report of two cases.
Gupta S, Bhowate RR, Bhati A
J Contemp Dent Pract 2010 Jul 1;11(4):E049-55. PMID: 20953564

Clinical prediction guides

Dentin defects caused by a Dspp(-1) frameshift mutation are associated with the activation of autophagy.
Liang T, Smith CE, Hu Y, Zhang H, Zhang C, Xu Q, Lu Y, Qi L, Hu JC, Simmer JP
Sci Rep 2023 Apr 19;13(1):6393. doi: 10.1038/s41598-023-33362-1. PMID: 37076504Free PMC Article
The Modified Shields Classification and 12 Families with Defined DSPP Mutations.
Simmer JP, Zhang H, Moon SJH, Donnelly LA, Lee YL, Seymen F, Koruyucu M, Chan HC, Lee KY, Wu S, Hsiang CL, Tsai ATP, Slayton RL, Morrow M, Wang SK, Shields ED, Hu JC
Genes (Basel) 2022 May 12;13(5) doi: 10.3390/genes13050858. PMID: 35627243Free PMC Article
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.
de La Dure-Molla M, Philippe Fournier B, Berdal A
Eur J Hum Genet 2015 Apr;23(4):445-51. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.159. PMID: 25118030Free PMC Article
Dentin dysplasia, type II linkage to chromosome 4q.
Dean JA, Hartsfield JK Jr, Wright JT, Hart TC
J Craniofac Genet Dev Biol 1997 Oct-Dec;17(4):172-7. PMID: 9493074

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