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Dentinogenesis imperfecta type 2

MedGen UID:
831237
Concept ID:
CN200043
Disease or Syndrome
Synonyms: Capdepont teeth; Dentinogenesis imperfecta, Shields type 2; DGI-2; DI-2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Orphanet: ORPHA166260

Definition

Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDentinogenesis imperfecta type 2
Follow this link to review classifications for Dentinogenesis imperfecta type 2 in Orphanet.

Recent clinical studies

Etiology

Andersson K, Dahllöf G, Lindahl K, Kindmark A, Grigelioniene G, Åström E, Malmgren B
PLoS One 2017;12(5):e0176466. Epub 2017 May 12 doi: 10.1371/journal.pone.0176466. PMID: 28498836Free PMC Article
Wang H, Hou Y, Cui Y, Huang Y, Shi Y, Xia X, Lu H, Wang Y, Li X
Mutat Res 2009 Mar 9;662(1-2):22-7. Epub 2008 Dec 6 doi: 10.1016/j.mrfmmm.2008.11.019. PMID: 19103209
Acevedo AC, Santos LJ, Paula LM, Dong J, MacDougall M
Cells Tissues Organs 2009;189(1-4):230-6. Epub 2008 Sep 16 doi: 10.1159/000152917. PMID: 18797159Free PMC Article
Sapir S, Shapira J
Pediatr Dent 2001 May-Jun;23(3):232-7. PMID: 11447953
Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo WH, Shen Y
Nat Genet 2001 Feb;27(2):151-2. doi: 10.1038/84765. PMID: 11175779

Diagnosis

Andersson K, Dahllöf G, Lindahl K, Kindmark A, Grigelioniene G, Åström E, Malmgren B
PLoS One 2017;12(5):e0176466. Epub 2017 May 12 doi: 10.1371/journal.pone.0176466. PMID: 28498836Free PMC Article
Beltrame AP, Rosa MM, Noschang RA, Almeida IC
J Clin Pediatr Dent 2017;41(2):112-115. doi: 10.17796/1053-4628-41.2.112. PMID: 28288297
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
Majorana A, Bardellini E, Brunelli PC, Lacaita M, Cazzolla AP, Favia G
Int J Paediatr Dent 2010 Mar;20(2):112-8. doi: 10.1111/j.1365-263X.2010.01033.x. PMID: 20384825
Acevedo AC, Santos LJ, Paula LM, Dong J, MacDougall M
Cells Tissues Organs 2009;189(1-4):230-6. Epub 2008 Sep 16 doi: 10.1159/000152917. PMID: 18797159Free PMC Article

Therapy

Shapiro JR, McCarthy EF, Rossiter K, Ernest K, Gelman R, Fedarko N, Santiago HT, Bober M
Calcif Tissue Int 2003 Feb;72(2):103-12. Epub 2002 Dec 4 doi: 10.1007/s00223-001-1055-5. PMID: 12457260

Prognosis

Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A
Eur J Hum Genet 2015 Aug;23(8):1042-50. Epub 2015 May 6 doi: 10.1038/ejhg.2015.81. PMID: 25944380Free PMC Article
Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR
Clin Genet 2015 Feb;87(2):133-40. Epub 2014 May 30 doi: 10.1111/cge.12409. PMID: 24754836Free PMC Article
Rauch F, Lalic L, Roughley P, Glorieux FH
Eur J Hum Genet 2010 Jun;18(6):642-7. Epub 2010 Jan 20 doi: 10.1038/ejhg.2009.242. PMID: 20087402Free PMC Article
Sapir S, Shapira J
Pediatr Dent 2001 May-Jun;23(3):232-7. PMID: 11447953
O'Connell AC, Marini JC
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999 Feb;87(2):189-96. PMID: 10052375

Clinical prediction guides

Beltrame AP, Rosa MM, Noschang RA, Almeida IC
J Clin Pediatr Dent 2017;41(2):112-115. doi: 10.17796/1053-4628-41.2.112. PMID: 28288297
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
Acevedo AC, Santos LJ, Paula LM, Dong J, MacDougall M
Cells Tissues Organs 2009;189(1-4):230-6. Epub 2008 Sep 16 doi: 10.1159/000152917. PMID: 18797159Free PMC Article
Malmgren B, Lindskog S
Acta Odontol Scand 2003 Apr;61(2):72-80. PMID: 12790503
Thotakura SR, Mah T, Srinivasan R, Takagi Y, Veis A, George A
J Dent Res 2000 Mar;79(3):835-9. doi: 10.1177/00220345000790030901. PMID: 10765957

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