ArticlePloS one2012
Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 25 citations in OpenAlex.
- A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2024Article
- Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.Clinical oral investigations · 2023Article
- Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants.Journal of applied oral science : revista FOB · 2023Article
- Genotype-phenotype pattern analysis of pathogenicFrontiers in genetics · 2023Article
- The Genes Involved in Dentinogenesis.Organogenesis · 2022Article
- Article
- Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations inJournal of personalized medicine · 2021Article
- The role of external aetiological factors in dental anomalies in non-syndromic cleft lip and palate patients.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2019Article
- The dentin phosphoprotein repeat region and inherited defects of dentin.Molecular genetics & genomic medicine · 2016Article
- Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.Frontiers in physiology · 2016Article
- Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.PloS one · 2013Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
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.
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