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Table 3 The mutations found in patients carrying only one heterozygous mutation.

From: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Patient Mutation Residual activity (%WT) Dominant negative effect (%WT) Parent carrier Clinical symptoms in the parent carrier Haplotypes Trans
or cis
Clin. form
1 p.G456W 0.8 14.5 F no A/A - Ch
2 p.G420A 4.2 19.7 ? no A/C - Od
3 p.D378V 1.2 19.9 F no A/E Cis likely Ch
4 p.L414M 0.4 23.5 M ? A/C - Od
5 p.P108L 1.9 24.0 M yes A/E trans Od
6 p.N417S 3.0 26.5 M no A/A - Od
7 p.N417S 3.0 26.5 F yes A/E trans Od
8 p.N417S 3.0 26.5 ? no A/A - Ad
9 p.N417S 3.0 26.5 F yes A/A - Od
10 p.E452K 1.4 27.5 M yes A/B - Ad
11 p.T100M 1.3 28.2 M no A/E Cis Ch
12 p.R391H 0 29.1 ? ? B/E Cis Od
13 p.V382I 0a 30a F yes A/J - Pb
14 p.R71H 1.0 30.5 ? no A/B - Od
15 p.R71H 1.0 30.5 M ? A/B - Od
16 p.R71H 1.0 30.5 M no A/C - Od
17 p.R71H 1.0 30.5 M yes E/E Cis/trans Od
18 p.E429K 1.3 31.0 F no B/E Trans Od
19 p.G339R 1.1 33.0 F no A/B - Od
20 p.G339R 1.1 33.0 F yes A/B   Od
21 p.G339R 1.1 33.0 M yes B/E Trans Od
22 p.R71C 2.5 35.0 F no A/A - Od
23 p.R71C 2.5 35.0 M no A/C - Od
24 p.S445P 2.1 35.1 ? ? A/C - Ad
25 p.R184W 0.6 36.7 ? ? A/A - Ad
26 p.R184W 0.6 36.7 M no A/A - Od
27 p.R184W 0.6 36.7 F yes A/B - Ch
28 p.R184W 0.6 36.7 M no A/E Trans Od
29 p.N478I 1.5 38.2 ? no A/B - Ch
30 p.G334R 5.0 39.0 ? no A/C - Od
31 p.E476A 0.4 39.3 M ? A/E Trans Ad
32 p.G334D 1.7 40.0 P no A/E Cis Od
33 p.A116T 0.6 40.0 M yes A/E Trans Od
34 p.I72T 5.1 40.2 M no A/B - Od
35 p.V459L 0 41.1 ? yes A/A - Od
36 p.G122S 4.5 43.6 F ? A/A - Od
37 p.A111T 2.0 48.7 F yes E/E Cis/trans Od
38 p.R391C 3.75 50.5 M ? B/E Trans Ch
39 p.G456R 1.5 50.5 ? no A/D - Ad
40 p.G456R 1.5 50.5 ? yes A/A - Od
41 p.G456R 1.5 50.5 F ? A/E Cis Ch
42 p.A443V 1.38 53.1 ? no A/A - Ad
43 p.A176T 30.2 58.0 ? ? A/A - Ad
44 p.R136H 33.4 70.0 ? ? A/E - Ad
45 p.G249V 34.5 70.5 F yes A/C - Ch
46 p.I490F 37.1 77.4 ? no A/E - Ad
47 p.E191K 56.0 79.5 M no A/A - Od
  1. The dominant negative effect was measured by co-transfecting wild type (WT) and mutant cDNAs in COS cells and assaying the AP activity. Absence of dominant negative effect is expected to product 50% of WT activity. Parent carrier: F = father; M = mother. Haplotypes correspond to the haplotypes made of the 8 intragenic SNPs studied (see Material and Methods) found in the patient. Trans/Cis indicates the position of the haplotype E regarding to the mutation. Clin. Form = clinical form of the patient.
  2. a As reported by Takinami et al. 2004 [11]