ArticleBMC medical genetics2010
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2025Pooled it
- Calcium phosphate polymer induced liquid precursor improves dentin bonding performance of primary teeth with dentinogenesis imperfecta type II.BMC oral health · 2026Article
- Splicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta.BMC oral health · 2026Article
- Dentinogenesis imperfecta type II dentin: nanostructural mechanics analysis.BMC oral health · 2025Article
- Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.Frontiers in cell and developmental biology · 2024Review
- Regenerative Endodontic Treatment in Dentinogenesis Imperfecta-Induced Apical Periodontitis.Case reports in dentistry · 2024Article
- Article
- Dentine sialophosphoprotein signal in dentineogenesis and dentine regeneration.European cells & materials · 2021Review
- Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.Molecular genetics & genomic medicine · 2018Article
- Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.Frontiers in physiology · 2016Article
- Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.European journal of human genetics : EJHG · 2015Review
- Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations.Journal of clinical and diagnostic research : JCDR · 2013Article
- A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.BioMed research international · 2013Article
- Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.European journal of oral sciences · 2011Article
- Porcine dentin sialoprotein glycosylation and glycosaminoglycan attachments.BMC biochemistry · 2011Article
- A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.PloS one · 2011Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSeveral studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II) may be caused by mutations in dentin sialophosphoprotein (DSPP). However, no previous studies have documented the clinical phenotype and genetic basis of DGI-II in a Mongolian family from China.
methodsWe identified a large five-generation Mongolian family from China with DGI-II, comprising 64 living family members of whom 22 were affected. Linkage analysis of five polymorphic markers flanking DSPP gene was used to genotype the families and to construct the haplotypes of these families. All five DSPP exons including the intron-exon boundaries were PCR-amplified and sequenced in 48 members of this large family.
resultsAll affected individuals showed discoloration and severe attrition of their teeth, with obliterated pulp chambers and without progressive high frequency hearing loss or skeletal abnormalities. No recombination was found at five polymorphic markers flanking DSPP in the family. Direct DNA sequencing identified a novel A-->G transition mutation adjacent to the donor splicing site within intron 3 in all affected individuals but not in the unaffected family members and 50 unrelated Mongolian individuals.
conclusionThis study identified a novel mutation (IVS3+3A-->G) in DSPP, which caused DGI-II in a large Mongolian family. This expands the spectrum of mutations leading to DGI-II.
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