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Fig. S1. ENAM gene structure and disease-causing mutations. The numbered boxes are exons; the lines introns. The numbers below each exon show the range of amino acids encoded by it. Shaded exon regions are non-coding. Bold numbers indicate ENAM mutations. The gene numbers start from the first nucleotide of the ENAM reference sequence NG_013024.1. The cDNA numbers start from the translation initiation site of ENAM reference sequence NM_031889.2. The protein designations are deduced and have not been verified experimentally.

Fig. S2. Oral photos of phenotypes associated with defined heterozygous ENAM defects. (a, b) c.107delA exon 4 frameshift (this report), (c, d) c.157A>T exon 5 nonsense mutation (reprinted with permission from Ref. (1), Oxford University Press; Ref. (2), John Wiley & Sons A/S), (e) c.211-2A>C intron 6 splice junction acceptor (3), (f) c.534+1G>A intron 8 splice junction donor (reprinted with permission from Ref. (4), Oxford University Press), (g, h) c.535-2A>G intron 8 splice junction acceptor (reprinted with permission from Refs. (5, 6), Karger Publishers), (i) c.536G>T first codon in exon 9 missense mutation (p.R179M) (reprinted with permission from Ref. (7), Elsevier), (j) c.(583-588+1)delG exon 9 frameshift/intron 9 splice junction donor (3).

Fig. S3. Oral photos of phenotypes associated with defined 5′ ENAM defects. (a, b) c.(583-588+1) delG exon 9 frameshift/intron 9 splice junction donor (reprinted with permission from Ref. (9), Elsevier), (c) c.647G>T exon 10 phosphoserine missense mutation (p.S216L) (11), (d) c.737C>A exon 10 nonsense mutation (p.S246X) (reprinted with permission from Ref. (12), SAGE Publications), (e) c.1020_1021insAGTCAGTACCAGTACTGTGTC exon 10 insertion (p.V340_M341insSQYQYCV) (reprinted with permission from Ref. (12), SAGE Publications), (f, g) c.1259_1230 insAG exon 10 frameshift (p.V422PfsX448) (reprinted with permission from Ref. (10), Elsevier), (h, i) c.2991delT exon 10 frameshift (p.L998WfsX1062) (reprinted with permission from Ref. (13), SAGE Publications).

Fig. S4. Oral photos of phenotypes associated with ENAM defects in both alleles. In all cases reported so far, one ENAM allele has always been the p.V422PfsX448 exon 10 frameshift. (a–e) Exon 10 frameshift (p.V422PfsX448) in both alleles (reprinted with permission from Ref. (13), SAGE Publications; Ref. (14), BMJ Publishing Group Ltd; Ref. (15), American Academy of Pediatric Dentistry). (f) p.S216L/p.V422PfsX448 compound heterozygote (11), (g, h) p.V340_M341insSQYQYCV/p.V422PfsX448 compound heterozygote (reprinted with permission from Ref. (12), SAGE Publications). In all cases of homozygous ENAM defects, the phenotype is severe, generalized enamel hypoplasia.

The various references cited inside the supporting figure captions are available online.

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