Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Table 2 Genotype-phenotype correlations in HP patients.

	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.

ISSN: 1750-1172