Figure 1
From: Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta
Pedigree, clinical images and variant sequencing traces for families 1 and 2, and the positions of all variants identified in ACPT in individuals with AI. Family 1 (a) clinical image of IV:2 shows rough, hard hypoplastic AI in the primary dentition. Additional clinical images and radiographs are shown in Supplementary Figure S2. Family 2 (b) clinical image of IV:1 shows rough, hard, hypoplastic AI in the mixed dentition. Additional clinical images and radiographs are shown in Supplementary Figure S2. Sequencing traces are shown for the ACPT variants identified in family 1: c.746C>T, p.(P249L) and family 2: c.428C>T, p.(T143M). ACPT Refseq transcript NM_033068.2, ACPT Refseq protein NP_149059.1. (c) Exon and intron structure of ACPT (NM_033068.2) labelled with all of the reported variants identified in AI patients. (d) Protein domain structure of ACPT (NP_149059.2) labelled with the positions of the residues affected by the variants identified in AI patients. * indicates variants identified in this study. Other variants reported by Seymen et al.
