Table 1.
Genetic alterations of the ALPL gene detected in the analyzed osteopenic/osteoporotic patients with persistent hypophosphatasemia
| Patient ID | Exon/Intron | dbSNP* | DNA | Protein | Clinical significance | Haplotype |
|---|---|---|---|---|---|---|
| 1 | Exon 9 | – | c.921del | p.(Ser308Hisfs*58) | Pathogenic | Heterozygosity |
| 2 | Exon 6 | rs121918019 | c.526G > A | p.(Ala176Thr) | Likely pathogenic, pathogenic | Heterozygosity |
| Exon 5 | rs1780316 | c.330 T > C | p.(Ser110Ser) | Likely benign, benign | Heterozygosity | |
| Intron 8 | rs1256328 | c.793-31C > T | – | Benign | Homozygosity | |
| Exon 12 | rs34605986 | c.1565 T > C | p.(Val522Ala) | Likely benign, benign | Heterozygosity | |
| 3 | Exon 5 | rs121918011 | c.407G > A | p.(Arg136His) | Pathogenic,uncertain-significance | Heterozygosity |
| 4 | Exon 5 | rs121918011 | c.407G > A | p.(Arg136His) | Pathogenic,uncertain-significance | Heterozygosity |
| 5 | Exon 6 | rs121918007 | c.571G > A | p.(Glu191Lys) | Pathogenic-likely, pathogenic | Heterozygosity |
| 6 | Exon 5 | rs1780316 | c.330 T > C | p.(Ser110Ser) | Likely benign, benign | Homozygosity |
| Exon 5 | rs149344982 | c.455G > A | p.(Arg152His) | Likely benign, benign | Heterozygosity | |
| Intron 3 | rs1767430 | c.181 + 52C > A | – | Benign | Heterozygosity | |
| 7 | Exon 5 | rs1780316 | c.330 T > C | p.(Ser110Ser) | Likely benign, benign | Homozygosity |
| 8 | Exon 5 | rs1780316 | c.330 T > C | p.(Ser110Ser) | Likely benign, benign | Homozygosity |
| 9 | Exon 5 | rs1780316 | c.330 T > C | p.(Ser110Ser) | Likely benign, benign | Homozygosity |
| Exon 7 | rs3200254 | c.787 T > C | p.(Tyr263His) | Benign | Heterozygosity | |
| Exon 9 | rs3200255 | c.876A > G | p.(Pro292Pro) | Benign | Heterozygosity | |
| Intron 9 | rs74063111 | c.863-7 T > C | – | Benign | Heterozygosity | |
| Intron 9 | rs75829132 | c.863-12C > G | – | Benign | Heterozygosity | |
| Intron 11 | rs4654760 | c.1309 + 46C > T | – | Benign | Heterozygosity | |
| 10 | Exon 5 | rs1780316 | c.330 T > C | p.(Ser110Ser) | Likely benign, benign | Homozygosity |
| Exon 5 | rs3200254 | c.787 T > C | p.(Tyr263His) | Benign | Heterozygosity | |
| Exon 9 | rs3200255 | c.876A > G | p.(Pro292Pro) | Benign | Heterozygosity | |
| Intron 9 | rs74063111 | c.863-7 T > C | – | Benign | Heterozygosity | |
| Intron 9 | rs75829132 | c.863-12C > G | – | Benign | Heterozygosity | |
| 11 | Exon 5 | rs1780316 | c.330 T > C | p.(Ser110Ser) | Likely benign, benign | Homozygosity |
| Exon 5 | rs149344982 | c.455G > A | p.(Arg152His) | Likely benign, benign | Heterozygosity | |
| 12 | Exon 7 | rs3200254 | c.787 T > C | p.(Tyr263His) | Benign | Heterozygosity |
| Intron 8 | rs2275377 | c.862 + 20G > T | – | Benign | Heterozygosity | |
| Intron 8 | rs2275376 | c. 862 + 51G > A | – | Benign | Heterozygosity | |
| Intron 8 | rs2275375 | c.862 + 58C > T | – | Benign | Heterozygosity | |
| 13 | Intron 3 | rs1767430 | c.181 + 52C > A | – | Benign | Heterozygosity |
| Exon 5 | rs1780316 | c.330 T > C | p.(Ser110Ser) | Likely benign, benign | Heterozygosity | |
| Intron 5 | rs564375559 | c.472 + 12insG | – | Benign | Heterozygosity | |
| Exon 7 | rs3200254 | c.787 T > C | p.(Tyr263His) | Benign | Heterozygosity | |
| Intron 8 | rs2275377 | c.862 + 20G > T | – | Benign | Heterozygosity | |
| Intron 8 | rs2275376 | c. 862 + 51G > A | – | Benign | Heterozygosity | |
| Intron 8 | rs2275375 | c.862 + 58C > T | – | Benign | Heterozygosity | |
| Exon 9 | rs3200255 | c.876A > G | p.(Pro292Pro) | Benign | Heterozygosity | |
| Intron 9 | rs75829132 | c.863-12C > G | – | Benign | Heterozygosity | |
| Intron 9 | rs74063111 | c.863-7 T > C | – | Benign | Heterozygosity |
*dbSNP, single nucleotide polymorphism database