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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.