Table 5.

Other Types of Osteogenesis Imperfecta in the Differential Diagnosis of COL1A1/2 Osteogenesis Imperfecta

Functional GroupGeneMOIOMIM-Defined Genetic OI Type 1Clinical OI
Type 2		Distinguishing from COL1A1/2-OI
Collagen type I processing BMP1 AROI type XIII (OMIM 614856)OI-IIIUmbilical hernia; hypertelorism; no DI or HL
CRTAP AROI type VII (OMIM 610682)OI-II, III, or IVNormal birth length; proptosis; no DI; pulmonary vasculature malformations; rhizomelia
FKBP10 ARBruck syndrome 1 / OI type XI (OMIM 259450 & 610968)OI-III or IVBrachycephaly; no easy bruising; no DI or HL; white sclera; inguinal hernia; joint contractures; pterygia
P3H1 (LEPRE1)AROI type VIII (OMIM 610915)OI-II or IIINo DI; white sclerae; proptosis; long phalanges
PLOD2 ARBruck syndrome 2 (OMIM 609220)OI-IIINo DI or HL; white sclerae; inguinal hernia; joint contractures; pterygia
PPIB AROI type IX (OMIM 259440)OI-II, III, or IVNo DI or HL; white sclerae
SEC24D ARCole-Carpenter syndrome 2 (OMIM 616294)OI-IIITurricephaly; proptosis; hypertelorism; dysplastic ears; no HL; white sclerae; hydrocephalus; high-pitched voice
SERPINH1 AROI type X (OMIM 613848)OI-IIIMacrocephaly; proptosis; renal calculi
SPARC AROI type XVII (OMIM 616507)OI-IVNo DI or HL; white sclerae; risk for intracranial hemorrhage
TMEM38B AROI type XIV (OMIM 615066)OI-IIINo DI or HL; white sclerae
Other osteoblast genes CREB3L1 AROI type XVI (OMIM 616229)OI-IIITooth agenesis
IFITM5 ADOI w/calcification in interosseous membranes, OI type V (OMIM 610967)Short stature & fracturesSclerae generally white; DI rare; hypertrophic callus formation; calcification of interosseous membrane between ulna & radius that leads to inability to fully supinate & pronate forearm; no HL
MBTPS2 XLOI type XIX (OMIM 301014)

OI-III or IV

No HL; sclerae generally white; rhizomelia; epiphyseal "popcorn" calcification
MESD 3AROI type XX (OMIM 618644)

OI-III-IV

Facial dysmorphisms incl arched eyebrows & tented shape of lips; long fingers w/5th finger camptodactyly; oligodontia
SERPINF1 AROI type VI (OMIM 613982)OI-III or IVNo DI or HL
SP7 AROI type XII (OMIM 613849)OI-III or IVNo DI; white sclerae
TENT5A (FAM46A)AROI type XVIII (OMIM 617952)OI-III or IVNo DI or HL; umbilical hernia
WNT1 AROI type XV (OMIM 615220)OI-III or IVStructural brain malformations; rhizomelia

AD = autosomal dominant; AR = autosomal recessive; DI = dentinogenesis imperfecta; HL = hearing loss; MOI = mode of inheritance; XL = X-linked

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From: COL1A1/2 Osteogenesis Imperfecta

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