OI TYPE

INHERITANCE

PHENOTYPE

GENE MUTATION

DEFECTS IN COLLAGEN SYNTHESIS, STRUCTURE, OR PROCESSING

I

AD

Mild

Null COL1A1 Allele

II

AD

Lethal

COL1A1 or COL1A2

III

AD

Progressive Deforming

COL1A1 or COL1A2

IV

AD

Moderate

COL1A1 or COL1A2

XIII

AR

Mild/Severe

BMP1

DEFECTS IN BONE MINERALIZATION

V

AR

Variable, Distinctive Histology

IFITM5

VI

AR

Moderate/Severe

SERPINF1

DEFECTS IN COLLAGEN MODIFICATION

VII

AR

Severe (Hypomorphic) Severe/Lethal (Null)

CRTAP

VIII

AR

Severe/Lethal

LEPRE1

IX

AR

Moderate/Lethal

PPIB

XIV

AR

Severe

TMEM38B

DEFECTS IN COLLAGEN FOLDING AND CROSS-LINKING

X

AR

Severe/Lethal

SERPINH1

XI/BRKS1

AR

Mild/Severe

FKBP10

BRKS2

AR

Moderate/Severe

PLOD2

DEFECTS IN OSTEOBLAST DEVELOPMENT WITH COLLAGEN INSUFFICIENCY

XII

AR

Severe

SP7

XV

AR

Severe

WNT1

XVI

AR

Severe

CREB3L1

XVII

AR

Progressive Severe

SPARC

XVIII

XR

Moderate/Severe

MBTPS2

XIX

AR

Severe

FAM46A/TENT5A

XX

AR

Progressive Severe/Lethal

MESD

XXI

AR

Severe + Neurodevelopmental

KDELR2

XXII

AR

Severe

CCDC134