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Table 2 ALPL gene mutations of Chinese children with HPP

From: Clinical and genetic characteristics of hypophosphatasia in Chinese children

Disease subtype No Status Type DNA Protein Exon/intron Source References
Perinatal lethal 1 Compound heterozygous M c.406C>T p. Arg136Cys E5 Father [31]
    M c.461C>T p. Ala154Val E5 Mother  
  2 Compound heterozygous F c.650delTinsCTAA p.217delValinsAlaLys E7 Mother [32]
    F c.984_986delCTT p. Phe328del E9 Father  
Infantile 3 NA NA NA NA NA NA PA-1
  4 Compound heterozygous M c.83A>G p. Tyr28Cys E3 NA PA-2
    M c.98C>T p. Ala33Val E3 NA  
  5 Compound heterozygous M c.668G>A p. Arg223Gln E7 de novo PA-3
    F c.1101_1103delCTC p. Ser368del E10 Mother  
  6 Compound heterozygous F c.1097_1099delCCT p.366_367delThrSerinsThr E10 Father PA-4
    M c.527C>T p. Ala176Val E6 Mother  
  7 Compound heterozygous M c.98C>T p. Ala33Val E3 Mother PA-5
    M c.406C>T p. Arg136Cys E5 Father  
  8 Compound heterozygous M c.98C>T p. Ala33Val E3 Father PA-6
    F c.1097_1099delCCT p.366_367delThrSerinsThr E10 Mother  
  9 Homozygous M c.359G>C p. Gly120Ala E5 NA [5]
  10 Compound heterozygous F c.228delG p. Gln76Hisfs*46 E4 Mother [33]
    M c.407G>A p. Arg136His E5 Father  
  11 NA NA NA NA NA NA [34]
  12 Compound heterozygous M c.814C>T p. Arg272Cys E7 Father [35]
    F c.1101_1103delCTC p. Ser368del E9 Mother  
Childhood 13 Compound heterozygous M c.407G>A p. Arg136His E5 Father PA-7
    M c.802T>C p. Phe268Leu E8 Mother  
  14 Compound heterozygous M c.212G>A p. Arg71His E4 Father [5]
    M c.571G>A p. Glu191Lys E6 Mother  
  15 Compound heterozygous M c.203C>T p. Thr68Met E4 Mother [5]
    M c.571G>A p. Glu191Lys E6 Father  
  16 Heterozygous M c. 1162T>C p. Tyr388His E10 Mother [6]
  17 Heterozygous F c.412_413insC p. Arg138Profs45x E5 Mother [6]
  18 Compound heterozygous M c.1183A>G p. Ile395Val E10 Father [36]
    M c.85T>C p. Trp29Arg E3 Mother  
  19 Compound heterozygous M c.407G>A p. Arg136His E5 Father [37]
    M c.1166C>A p. Thr389Asn E10 Mother  
  20 Compound heterozygous M c.331G>A p. Ala111Thr E5 Mother [37]
    M c.655A>G p. Met219Val E7 Father  
  21 Homozygous SJA c.298-1G>A IVS4 NA [38]
  22 Heterozygous M c.251A>T p. Glu84Val E4 Mother [39]
Odonto 23 Compound heterozygous F c.410delC p. Arg138GlyfsTer27 E5 Mother PA-8
    SJA c.297 + 5G>A IVS4 Father  
  24 Heterozygous M c.346G>A p. Ala116Thr E5 Father PA-9
  25 Compound heterozygous M c. 1162T>C p. Tyr388His E10 de novo PA-10
    F c. 1532insC p. Leu511Profs*272 E12 Mother  
  26 Compound heterozygous M c.979T>C p. Phe327Leu E9 Mother [5]
    F c.1017dupG p. His340Alafs E10 Father  
  27 Compound heterozygous M c.542C>T p. Ser181Leu E6 Mother [40]
    M c.1287G>T p. Glu429Asp E11 Father  
  28 Compound heterozygous M c.422C>A p. Thr141Asn E5 NA [6]
    M c.1489T>A p. Cys497Ser E12 NA  
  29 Compound heterozygous M c.422C>A p. Thr141Asn E5 NA [6]
    M c.1489T>A p. Cys497Ser E12 NA  
  30 Compound heterozygous M c.406C>T p. Arg136Cys E5 NA [6]
    M c.407G>A p. Arg136His E5 NA  
  31 Compound heterozygous M c.787T>C p. Tyr263His E7 Father and mother [41]
    R c.-92C>T E2 Mother  
  32 Compound heterozygous M c.787T>C p. Tyr263His E7 Father and mother [41]
    R c.-92C>T E2 Mother  
  33 Compound heterozygous M c.82T>G p. Tyr28Asp E3 Father [37]
    M c. 1162T>C p. Tyr388His E10 Mother  
  1. Bold type indicates the novel mutations identified in our present study
  2. NA not available, M Missense, F Frameshift, SJA splice junction alteration