ArticleCalcified tissue international2026
ODAPH (p.Arg77*) Phenotype and Onset of Ameloblast Pathology During Postsecretory Transition Demonstrated by FIB-SEM Analyses of Odaph
Article in Calcified tissue international, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Defects in Odontogenesis-Associated Phosphoprotein (ODAPH) cause autosomal recessive non-syndromic amelogenesis imperfecta (AI; OMIM #614832). We present a 14-year-old boy with delayed tooth eruption and generalized soft and yellow enamel. The proband's parents and two siblings were unaffected. Whole exome analyses identified the AI-causing homozygous ODAPH truncation mutation (p.Arg77*) in the proband. Both unaffected parents and one sibling were heterozygous for this change. The other sibling had the reference sequence. To better understand the role of ODAPH in normal amelogenesis and resolve conflicting reports of ODAPH expression and function during postsecretory transition (PST), we performed comprehensive Focused-Ion Beam Scanning Electron Microscopy analyses of continuously growing mandibular incisors from one wild-type and two Odaph
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