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Table 2 OI genetic nomenclature combined with causative genes and phenotypes

From: Reproductive options for families at risk of Osteogenesis Imperfecta: a review

OI clinical type Mutated gene Genetic OI type OMIM Inheritance Protein product Phenotype
OI 1 COL1A1 I-IV 166,200 AD, AR Collagen α1(I) Non deforming OI with blue sclera; Common variable OI with normal sclera; Progressively deforming
OI 2 166,210
OI 3 259,420
OI 4 166,220
OI 1 COL1A2 I-IV 166,200 AD, AR Collagen α2(I) Non deforming OI with blue sclera; Common variable OI with normal sclera; Progressively deforming
OI 2 166,210
OI 3 259,420
OI 4 166,220
OI 5 IFITM5 V 610,967 AD Bone-restricted interferon-induced transmembrane protein-like protein (BRIL; also known as IFITM5) OI with calcification in interosseous membranes, hyperplastic callus, radial head dislocation or severe bone deformity with grey sclera
OI 3
OI 3 SERPINF1 VI 613,982 AR Pigment epithelium-derived factor (PEDF) Progressively moderate to severe deforming, osteoid, fish-scale appearance of bone lamella
OI 3 CRTAP VII 610,682 AR Cartilage-associated protein (CRTAP) Progressively deforming, severe rhizomelia, white sclera
OI 2
OI 3 P3H1 (LEPRE1) VIII 610,915 AR Prolyl 3-hydroxylase 1 (P3H1) Progressively deforming, severe rhizomelia, white sclera
OI 2
OI 3 PPIB IX 259,440 AR Peptidyl-prolyl cistrans isomerase B (PPIase B) Severe bone deformity with grey sclera
OI 2
OI 3 SERPINH1 X 613,848 AR Serpin H1 (also known as HSP47) Severe skeletal deformity, blue sclera, dentinogenesis imperfecta, skin abnormalities and inguinal hernia
OI 3 FKBP10 XI 610,968 AR 65 kDa FK506-binding protein (FKBP65) Mild-to-severe skeletal deformity, normal-to-grey sclera and congenital contractures
OI 3 BMP1 XII 614,856 AR Bone morphogenetic protein 1 (BMP1) Mild-to-severe skeletal deformity and umbilical hernia
OI 3 SP7 XIII 613,849 AR Transcription factor SP7 (also known as osterix) Severe skeletal deformity with delayed tooth eruption and facial hypoplasia
OI 4
OI 3 TMEM38B XIV 615,066 AR Trimeric intracellular cation channel type B (TRIC-B; also known as TM38B) Severe bone deformity with normal-to-blue sclera
OI 3 WNT1 XV 615,220 AD, AR Proto-oncogene Wnt-1 (WNT1) Severe skeletal abnormalities, white sclera and possible neurological defects
OI 4
OI 2 CREB3L1 XVI 616,229 AR Old astrocyte specifically induced substance (OASIS; also known as CR3L1) Progressively severe deforming, respiratory deficiency
OI 3
OI 3 SPARC XVII 616,507 AR SPARC (also known as osteonectin) Progressively severe deforming, severe fragility
OI 3 TENT5A (FAM46A) XVIII 617952 AR Terminal nucleotidyltransferase 5A Progressively moderate to severe, congenital bowing of the lower limbs
OI 3 MBTPS2 XIX 301014 XLR Membrane-bound transcription factor site-2 protease (S2P) Progressively moderate to severe deforming, light blue sclera
OI 3 PLOD2 No type 609,220 AR Lysyl hydroxylase 2 (LH2) Progressively moderate to severe deforming, joint contractures
OI 3 MESD XX 618,644 AR Mesoderm development LRP chaperone Progressive deforming OI, oligodontia
OI 4 PLS3 No type 300910 XLR Plastin 3 Common variable OI with normal sclera, normal height
OI 3 NBAS No type 614800 AR Neuroblastoma amplified sequence Progressively moderate to severe deforming, intellectual disability, liver failure, optic nerve atrophy
OI 3 SEC24D No type 616294 AR Protein transport protein Sec24D Bone fragility, skull ossification defects, craniofacial dysmorphism
OI 3 CCDC134 No type 618,788 AR Coiled-coil domain containing protein 134 Bone fragility, Wormian bones, limited joint mobility, pseudoarthroses
  1. Adapted from Online Mendelian Inheritance in Man (OMIM) database [18, 29, 43]