Table 2.
1 infantile | 2 infantile | 3 childhood | 4 childhoodHP | 5 childhoodHP | |
Dental phenotype | severe | severe | severe | moderate | moderate |
AP values | 12 | 35 | 44 | 67 | 88 |
Genotype | c.571>A (p.E191K) c.1361A>G (p.H454R) |
c.571>A (p.E191K) c.550C>T (p.R184W) |
c.526G>A (p.A176T) c.648+1G>A |
c.1250A>G (p.N417S) | c. 212G>A (p.R71H) |
Type of mutations | moderate and severe |
moderate and severe |
moderate and severe |
severe | severe |
Mode of inheritance | AR | AR | AR | AD | AD |
Serum Alkaline Phosphatase (AP) values are those found at the age of diagnosis, i.e. between 6 months and 9 years of age. The normal values for children range from 123–283 UI/L.
Symbols: AR: autosomal recessive, AD: autosomal dominant
Footnote: Nucleotide and amino acid numbering are according to the international recommendation: the first nucleotide corresponds to the A of the ATG initiation codon.
The first amino acid corresponds to the ATG initiation codon.