ArticlePloS one2011
A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 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
- Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.Frontiers in cell and developmental biology · 2024Review
- Article
- Dentine sialophosphoprotein signal in dentineogenesis and dentine regeneration.European cells & materials · 2021Review
- Orthodontic Treatment of a Patient with Dentin Dysplasia Type I and Bilateral Maxillary Canine Impaction: Case Presentation and a Family-Based Genetic Analysis.Children (Basel, Switzerland) · 2021Article
- 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
- A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.BioMed research international · 2013Article
- Dentin sialophosphoprotein and dentin matrix protein-1: Two highly phosphorylated proteins in mineralized tissues.Archives of oral biology · 2012Review
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dentinogenesis imperfecta (DGI) type II is an autosomal dominant disease characterized by a serious disorders in teeth. Mutations of dentin sialophosphoprotein (DSPP) gene were revealed to be the causation of DGI type II (DGI-II). In this study, we identified a novel mutation (NG_011595.1:g.8662T>C, c.135+2T>C) lying in the splice donor site of intron 3 of DSPP gene in a Chinese Han DGI-II pedigree. It was found in all affected subjects but not in unaffected ones or other unrelated healthy controls. The function of the mutant DSPP gene, which was predicted online and subsequently confirmed by in vitro splicing analysis, was the loss of splicing of intron 3, leading to the extended length of DSPP mRNA. For the first time, the functional non-splicing of intron was revealed in a novel DSPP mutation and was considered as the causation of DGI-II. It was also indicated that splicing was of key importance to the function of DSPP and this splice donor site might be a sensitive mutation hot spot. Our findings combined with other reports would facilitate the genetic diagnosis of DGI-II, shed light on its gene therapy and help to finally conquer human diseases.
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