. Author manuscript; available in PMC: 2021 Oct 1.

Published in final edited form as: Eur J Endocrinol. 2020 Oct;183(4):R95–106. doi: 10.1530/EJE-20-0299

Table 1.

Current genetic classification of OI according to OMIM (Online Mendelian Inheritance in Man).

OI TYPE	Gene	Chromosomal Location	OMIM #	Inheritance	Proposed Pathway or Mechanism
I	COL1A1, COL1A2	17q21.33 7q21.3	166200	AD	Reduced amount of type I collagen
II	COL1A1, COL1A2	17q21.33 7q21.3	166210	AD	Folding, secretion and mineralization of type I collagen
III	COL1A1, COL1A2	17q21.33 7q21.3	259420	AD	Folding, secretion and mineralization of type I collagen
IV	COL1A1, COL1A2	17q21.33 7q21.3	166220	AD	Folding, secretion and mineralization of type I collagen
V	IFITM5	11p15.5	610967	AD	ECM mineralization
VI	SERPINF1	17p13.3	613982	AR	ECM mineralization
VII	CRTAP	3p22.3	610682	AR	PTM and folding of fibrillar collagen
VIII	P3H1	1p34.2	610915	AR	PTM and folding of fibrillar collagen
IX	PPIB	15q22.31	259440	AR	PTM and folding of fibrillar collagen
X	SERPINH1	11q13.5	613848	AR	Folding and intracellular trafficking of collagen
XI	FKBP10	17q21.2	610968	AR	Folding and intracellular trafficking of collagen
XII	SP7	12q13.13	613849	AR	Abnormal osteoblast differentiation
XIII	BMP1	8p21.3	614856	AR	Processing of collagen
XIV	TMEM38B	9q31.2	615066	AR	Ca²⁺ homeostasis in the ER
XV	WNT1	12q13.12	615220	AR	WNT anabolic signaling
XVI	CREB3L1	11p11.2	616229	AR	Protein quality control and ER stress response
XVII	SPARC	5q33.1	616507	AR	ECM mineralization
XVIII	TENT5A	6q14.1	617952	AR	Unknown
XIX	MBTPS2	Xp22.12	301014	XLR	Protein quality control and ER stress response
XX	MESD	15q25.1	618644	AR	WNT anabolic signaling

AD = autosomal dominant; AR = autosomal recessive; XLR = X-linked recessive; ECM = extracellular matrix; PTM = post-translational modification.