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Two homozygous missense ACPT variants (c.428C>T (p.Thr143Met) and c.746C>T (p.Pro249Leu)) were identified in 2 unrelated probands with recessive hypoplastic amelogenesis imperfecta, indicating autosomal recessive inheritance (PMID:28513613). Segregation with disease was demonstrated in both families, though no additional affected relatives were reported.
Analyses by computed tomography and scanning electron microscopy of a primary molar from an individual homozygous for c.746C>T (p.Pro249Leu) revealed hypoplastic yet mineralized enamel with preserved prismatic architecture, supporting disruption of ACPT’s role in phosphate supply during amelogenesis (PMID:28513613). These data establish a limited clinical validity for the association between ACPT and hypoplastic amelogenesis imperfecta, guiding diagnostic assessment of biallelic missense variants.
Gene–Disease AssociationLimitedTwo probands from two unrelated families with homozygous missense variants segregating with disease and supportive functional data. Genetic EvidenceLimited2 unrelated affected subjects with homozygous missense variants; no additional segregation. Functional EvidenceModerateMicroscopic analysis of enamel from an affected individual demonstrates hypoplastic yet mineralized structure, consistent with ACPT’s role in phosphate supply during amelogenesis. |