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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.