Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling

Table 1 Genes and proteins in osteogenesis imperfecta[1,2,8,13,17-19]

OI type	OMIM	Gene symbol	Approved gene name	Location	Protein name	Functional group
I	166200	COL1A1	Collagen type I alpha 1 chain	17q21.33	Collagen alpha-1(I) chain	A
II	166210	COL1A1	Collagen type I alpha 1 chain	17q21.33	Collagen alpha-1(I) chain	A
		COL1A2	Collagen type I alpha 2 chain	7q21.3	Collagen alpha-2(I) chain
III	259420	COL1A1	Collagen type I alpha 1 chain	17q21.33	Collagen alpha-1(I) chain	A
		COL1A2	Collagen type I alpha 2 chain	7q21.3	Collagen alpha-2(I) chain
IV	166220	COL1A1	Collagen type I alpha 1 chain	17q21.33	Collagen alpha-1(I) chain	A
		COL1A2	Collagen type I alpha 2 chain	7q21.3	Collagen alpha-2(I) chain
V	610967	IFITM5	Interferon induced transmembrane protein 5	11p15.5	Interferon-induced transmembrane protein 5	D
VI	613982	SERPINF1	Serpin family F member 1	17p13.3	Pigment epithelium-derived factor	D
VII	610682	CRTAP	Cartilage associated protein	3p22.3	Cartilage-associated protein	B
VIII	610915	P3H1	Prolyl 3-hydroxylase 1	1p34.2	Prolyl 3-hydroxylase 1	B
IX	259440	PPIB	Peptidylprolyl isomerase B	15q22.31	Peptidyl-prolyl cis-trans isomerase B	B
X	613848	SERPINH1	Serpin family H member 1	11q13.5	Serpin H1	C
XI	610968	FKBP10	FKBP prolyl isomerase 10	17q21.2	Peptidyl-prolyl cis-trans isomerase FKBP10	C
XII	613849	SP7	Sp7 transcription factor	12q13.13	Transcription factor Sp7	E
XIII	614856	BMP1	Bone morphogenetic protein 1	8p21.3	Bone morphogenetic protein 1	A
XIV	615066	TMEM38B	Transmembrane protein 38B	9q31.2	Trimeric intracellular cation channel type B	B
XV	615220	WNT1	Wnt family member 1	12q13.12	Proto-oncogene Wnt-1	E
XVI	616229	CREB3L1	cAMP responsive element binding protein 3 like 1	11p11.2	Cyclic AMP-responsive element-binding protein 3-like protein 1	E
XVII	616507	SPARC	Secreted protein acidic and cysteine rich	5q33.1	SPARC	E
XVIII	617952	TENT5A	Terminal nucleotidyltransferase 5A	6q14.1	Terminal nucleotidyltransferase 5A	Unclassified
XIX	301014	MBTPS2	Membrane bound transcription factor peptidase, site 2	Xp22.12	Membrane-bound transcription factor site-2 protease	E
XX	618644	MESD	Mesoderm development LRP chaperone	15q25.1	LRP chaperone MESD	Unclassified
XXI	619131	KDELR2	KDEL ER protein retention receptor 2	7p22.1	ER lumen protein-retaining receptor 2	C
XXII	619795	CCDC134	Coiled-coil domain containing 134	22q13.2	Coiled-coil domain-containing protein 134	Unclassified

OI: Osteogenesis imperfecta; OMIM: Online Mendelian Inheritance in Man; ER: Endoplasmic reticulum; LRP: Lipoprotein receptor-related protein.