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Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.
PLoS One. 2012; 7(12):e51533.Plos

Abstract

Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). The genetic etiology of DD-I is unknown. Defects in dentin sialophosphoprotein (DSPP) cause DD type II and DGI types II and III. DGI type I is the oral manifestation of osteogenesis imperfecta (OI), a systemic disease typically caused by defects in COL1A1 or COL1A2. Mutations in MSX1, PAX9, AXIN2, EDA and WNT10A can cause non-syndromic familial tooth agenesis. In this study a simplex pattern of clinical dentinogenesis imperfecta juxtaposed with a dominant pattern of hypodontia (mild tooth agenesis) was evaluated, and available family members were recruited. Mutational analyses of the candidate genes for DGI and hypodontia were performed and the results validated. A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family. Bone radiographs of the proband's dominant leg and foot were within normal limits. We conclude that when no DSPP mutation is identified in clinically determined isolated DGI cases, COL1A1 and COL1A2 should be considered as candidate genes. PAX9 mutation p.Phe15Ile within the N-terminal β-hairpin structure of the PAX9 paired domain causes tooth agenesis.

Authors+Show Affiliations

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23227268

Citation

Wang, Shih-Kai, et al. "Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI Without Skeletal Abnormalities." PloS One, vol. 7, no. 12, 2012, pp. e51533.
Wang SK, Chan HC, Makovey I, et al. Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. PLoS One. 2012;7(12):e51533.
Wang, S. K., Chan, H. C., Makovey, I., Simmer, J. P., & Hu, J. C. (2012). Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. PloS One, 7(12), e51533. https://doi.org/10.1371/journal.pone.0051533
Wang SK, et al. Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI Without Skeletal Abnormalities. PLoS One. 2012;7(12):e51533. PubMed PMID: 23227268.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. AU - Wang,Shih-Kai, AU - Chan,Hui-Chen, AU - Makovey,Igor, AU - Simmer,James P, AU - Hu,Jan C-C, Y1 - 2012/12/05/ PY - 2012/09/12/received PY - 2012/11/05/accepted PY - 2012/12/11/entrez PY - 2012/12/12/pubmed PY - 2013/5/23/medline SP - e51533 EP - e51533 JF - PloS one JO - PLoS One VL - 7 IS - 12 N2 - Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). The genetic etiology of DD-I is unknown. Defects in dentin sialophosphoprotein (DSPP) cause DD type II and DGI types II and III. DGI type I is the oral manifestation of osteogenesis imperfecta (OI), a systemic disease typically caused by defects in COL1A1 or COL1A2. Mutations in MSX1, PAX9, AXIN2, EDA and WNT10A can cause non-syndromic familial tooth agenesis. In this study a simplex pattern of clinical dentinogenesis imperfecta juxtaposed with a dominant pattern of hypodontia (mild tooth agenesis) was evaluated, and available family members were recruited. Mutational analyses of the candidate genes for DGI and hypodontia were performed and the results validated. A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family. Bone radiographs of the proband's dominant leg and foot were within normal limits. We conclude that when no DSPP mutation is identified in clinically determined isolated DGI cases, COL1A1 and COL1A2 should be considered as candidate genes. PAX9 mutation p.Phe15Ile within the N-terminal β-hairpin structure of the PAX9 paired domain causes tooth agenesis. SN - 1932-6203 UR - https://www.unboundmedicine.com/medline/citation/23227268/Novel_PAX9_and_COL1A2_missense_mutations_causing_tooth_agenesis_and_OI/DGI_without_skeletal_abnormalities_ L2 - https://dx.plos.org/10.1371/journal.pone.0051533 DB - PRIME DP - Unbound Medicine ER -