{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["62"],"submitter":["Boonyakanog A"],"pubmed_abstract":["The <i>DSPP</i> gene regulates dentin mineralisation, and its pathogenic variants cause a spectrum of defects ranging from dentin dysplasia (DD-II) to dentinogenesis imperfecta (DGI-II/III). Clinical variability often confounds diagnosis. This systematic review of 48 publications (70 variants, 99 records) delineates quantitative genotype-phenotype correlations. Results revealed distinct molecular clustering: Exon 5 harboured 61 % of variants, predominantly frameshifts disrupting the repetitive dentin phosphoprotein (DPP) domain. In contrast, upstream regions (exons 2-4) contained mixed variant types affecting the signal peptide and dentin sialoprotein (DSP). Statistical analysis established a definitive severity gradient. Exon 5 frameshifts were significantly associated with the milder DD-II, characterised by thistle-shaped pulps and clinically normal permanent dentition. Conversely, upstream signal peptide, splice site, and missense variants (exons 2-3) were linked to the severe DGI-III, manifesting as 'shell teeth', rapid attrition, and pulp exposure requiring complex prosthodontic intervention. DGI-II displayed no specific genomic clustering, representing an intermediate phenotype. These findings provide complementary insights to historical classifications, highlighting a continuous spectrum of <i>DSPP</i> disorders where upstream defects cause severe failure, while downstream defects result in attenuated localised anomalies. Consequently, integrating <i>DSPP</i> genotyping into diagnostic workflows is essential to predict disease progression, refine molecular taxonomy beyond the Shields system, and guide personalised rehabilitation."],"journal":["The Japanese dental science review"],"pagination":["46-56"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12830278"],"repository":["biostudies-literature"],"pubmed_title":["Beyond the diagnosis: Unraveling &lt;i&gt;DSPP&lt;/i&gt; genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta."],"pmcid":["PMC12830278"],"pubmed_authors":["Rokny HA","Eamtanaporn T","Sriwangyang K","Chantarangsu S","Cho SD","Fakhruddin KS","Krasaesin A","Boonyakanog A","Porntaveetus T"],"additional_accession":[]},"is_claimable":false,"name":"Beyond the diagnosis: Unraveling &lt;i&gt;DSPP&lt;/i&gt; genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.","description":"The <i>DSPP</i> gene regulates dentin mineralisation, and its pathogenic variants cause a spectrum of defects ranging from dentin dysplasia (DD-II) to dentinogenesis imperfecta (DGI-II/III). Clinical variability often confounds diagnosis. This systematic review of 48 publications (70 variants, 99 records) delineates quantitative genotype-phenotype correlations. Results revealed distinct molecular clustering: Exon 5 harboured 61 % of variants, predominantly frameshifts disrupting the repetitive dentin phosphoprotein (DPP) domain. In contrast, upstream regions (exons 2-4) contained mixed variant types affecting the signal peptide and dentin sialoprotein (DSP). Statistical analysis established a definitive severity gradient. Exon 5 frameshifts were significantly associated with the milder DD-II, characterised by thistle-shaped pulps and clinically normal permanent dentition. Conversely, upstream signal peptide, splice site, and missense variants (exons 2-3) were linked to the severe DGI-III, manifesting as 'shell teeth', rapid attrition, and pulp exposure requiring complex prosthodontic intervention. DGI-II displayed no specific genomic clustering, representing an intermediate phenotype. These findings provide complementary insights to historical classifications, highlighting a continuous spectrum of <i>DSPP</i> disorders where upstream defects cause severe failure, while downstream defects result in attenuated localised anomalies. Consequently, integrating <i>DSPP</i> genotyping into diagnostic workflows is essential to predict disease progression, refine molecular taxonomy beyond the Shields system, and guide personalised rehabilitation.","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Dec","modification":"2026-06-13T05:21:16.297Z","creation":"2026-06-13T03:09:18.667Z"},"accession":"S-EPMC12830278","cross_references":{"pubmed":["41583696"],"doi":["10.1016/j.jdsr.2026.01.001"]}}