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Table 1 Detection rate of ALPL mutations in the patients according to their clinical form

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

Clinical form

One mutation

Two mutations

Total

Perinatal

5 (6.4%)

73 (93.6%)

78

Infantile

2 (3.3%)

58 (96.7%)

60

Childhood

8 (23.5%)

26 (76.4%)

34

Adult

12 (40.0%)

18 (60.0%)

30

Odontohypophosphatasia

29 (74.3%)

10 (25.6%)

39

Total

56

185

241

  1. The mutations were detected by sequencing the coding sequence, including intron/exon borders, exon 1 and the untranslated part of exon 2.