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Exon 5 contains over 200 tandem 9-base pair repeats (DSS domain), complicating sequencing with standard methods.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and methods<\/jats:title>\n                    <jats:p>\n                      We studied 112 individuals (42 index cases and 70 relatives) with clinical signs of DI or DD. DNA extracted from saliva was analysed using the GenoDENT next-generation sequencing panel. For inconclusive cases, long-range PCR and Oxford Nanopore Technology (ONT) long-read sequencing were used to overcome limitations in analysing the repetitive\n                      <jats:italic>DSPP<\/jats:italic>\n                      region.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Pathogenic or likely pathogenic\n                      <jats:italic>DSPP<\/jats:italic>\n                      variants were identified in 41 families, including 8 known and 14 novel variants. Most were in exon 5, causing frameshifts resulting in a \u22121 reading-frame shift with a hydrophobic C-terminal extension and termination at a downstream stop codon. ONT sequencing enabled detection in cases where short-read methods failed. Several variants showed familial segregation and variable expressivity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study demonstrates the value of long-read sequencing to resolve complex\n                      <jats:italic>DSPP<\/jats:italic>\n                      regions and expands the variant spectrum. The variability in clinical presentation suggests the influence of modifier factors, warranting further genotype\u2013phenotype studies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2025-111345","type":"journal-article","created":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T17:20:25Z","timestamp":1773336025000},"page":"344-351","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnosis complexity of dentinogenesis imperfecta involving\n                    <i>DSPP<\/i>\n                    genetic variants"],"prefix":"10.1136","volume":"63","clinical-trial-number":[{"clinical-trial-number":"nct02397824","registry":"10.18810\/clinical-trials-gov"}],"author":[{"given":"Ga\u00e9tan","family":"Caravello","sequence":"first","affiliation":[{"name":"P\u00f4le de M\u00e9decine et Chirurgie Bucco-dentaires, H\u00f4pital Civil, Centre de R\u00e9f\u00e9rence des Maladies Rares 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