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Table 2 Causes of osteogenesis imperfecta, involved genes, location, inheritance, and gene products

From: The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment

Osteogenesis imperfecta OMIM Inheritance Gene Location Gene product
  Type I 166200 AD COL1A1 17q21.33 Collagen, Type I, Alpha-1
  Type II 166210 AD COL1A1 17q21.33 Collagen, Type I, Alpha-1
  166210 AD COL1A2 7q21.3 Collagen, Type I, Alpha-2
  Type III 259420 AD COL1A1 17q21.33 Collagen, Type I, Alpha-1
  259420 AD COL1A2 7q21.3 Collagen, Type I, Alpha-2
  Type IV 166220 AD COL1A2 7q21.3 Collagen, Type I, Alpha-2
  166220 AD COL1A1 17q21.33 Collagen, Type I, Alpha-1
  Type V 610967 AD IFITM5 11p15.5 Interferon-induced transmembrane protein-5
  Type VI 613982 AR SERPINF1 17p13.3 Serpin peptidase inhibitor
  610682 AR CRTAP 3p22.3 Cartilage-associated protein
  610915 AR LEPRE1 1P34.2 Leucine- and Proline-Enriched Proteoglycan 1
  Type IX 259440 AR PPIP 15q22.31 Peptidyl-prolyl isomerase b
  Type X 613848 AR SERPINH1 11q13.5 Serpin peptidase inhibitor, Clade H, Member 1
  Type XI 610968 AR FKBP10 17q21.2 FK506-binding protein 10
  Type XII 613849 AR SP7 12q13.13 Transcription factor Sp7
  Type XIII 614856 AR BMP1 8q21.3 Bone morphogenetic protein 1
  Type XIV 615066 AR TMEN38B 9q31.2 Transmembrane Protein 38B
  Type XV 615220 AR WNT1 12q13.12 Wingless-type MMTV Integration Site Family, Member 1
  1. Note. This table lists only the most frequent types according to the recent literature.