Characteristic findings in patients with MMD2 mutations and heterozygous MMD2 mutations identified in two families. (A) The families’ pedigrees with p.A116V mutation. Arrows indicate the proband. Filled and open symbols represent affected and unaffected subjects, respectively. Genotypes of the variants c.347C>T and c.377G>C are shown under the number of samples. (B) X-ray images of the 26-year-old patient A-III-4. The normal alveolar bone line is indicated by a yellow dotted line, while the patient’s alveolar bone line is indicated by a red dotted line. (C) The families’ pedigrees with p.R126P mutation. (D) X-ray images of the 16-year-old patient B-III-1. (E) The intron/exon organization and amino acid alignments. Sanger sequencing of MMD2 gene exons 4 and 5 with or without the mutation. The amino acid sequences that were completely conserved among vertebrates. (F) Three-dimensional structural representations of MMD2.
Figure 1.

Characteristic findings in patients with MMD2 mutations and heterozygous MMD2 mutations identified in two families. (A) The families’ pedigrees with p.A116V mutation. Arrows indicate the proband. Filled and open symbols represent affected and unaffected subjects, respectively. Genotypes of the variants c.347C>T and c.377G>C are shown under the number of samples. (B) X-ray images of the 26-year-old patient A-III-4. The normal alveolar bone line is indicated by a yellow dotted line, while the patient’s alveolar bone line is indicated by a red dotted line. (C) The families’ pedigrees with p.R126P mutation. (D) X-ray images of the 16-year-old patient B-III-1. (E) The intron/exon organization and amino acid alignments. Sanger sequencing of MMD2 gene exons 4 and 5 with or without the mutation. The amino acid sequences that were completely conserved among vertebrates. (F) Three-dimensional structural representations of MMD2.

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