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Osteogenesis imperfecta(OI)

MedGen UID:
45246
Concept ID:
C0029434
Congenital Abnormality
Synonyms: Brittle bone disease; COL1A1/2-Related Osteogenesis Imperfecta; OI
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Osteogenesis imperfecta (78314001); Osteopsathyrosis (78314001); Fragilitas ossium (78314001); Brittle bone syndrome (78314001); Brittle bone disease (78314001); OI - Osteogenesis imperfecta (78314001)
 
Genes (locations): COL1A1 (17q21.33); COL1A2 (7q21.3)
Orphanet: ORPHA666

Disease characteristics

Excerpted from the GeneReview: COL1A1/2-Related Osteogenesis Imperfecta
COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Robert D Steiner  |  Jessica Adsit  |  Donald Basel   view full author information

Additional description

From GHR
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, although their characteristic features overlap. Type I is the mildest form of osteogenesis imperfecta and type II is the most severe; other types of this condition have signs and symptoms that fall somewhere between these two extremes. Increasingly, genetic factors are used to define the different forms of osteogenesis imperfecta. The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that may begin before birth and result from little or no trauma. Additional features of these conditions can include blue sclerae, short stature, hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities have life-threatening problems with breathing and often die shortly after birth.  http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta

Professional guidelines

PubMed

van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G
Eur J Hum Genet 2012 Jan;20(1):11-9. Epub 2011 Aug 10 doi: 10.1038/ejhg.2011.141. [Epub ahead of print] PMID: 21829228Free PMC Article
Toriello HV, Meck JM; Professional Practice and Guidelines Committee
Genet Med 2008 Jun;10(6):457-60. doi: 10.1097/GIM.0b013e318176fabb. PMID: 18496227Free PMC Article
Byers PH, Krakow D, Nunes ME, Pepin M; American college of medical genetics
Genet Med 2006 Jun;8(6):383-8. doi: 10.109701.gim.0000223557.54670.aa. PMID: 16778601Free PMC Article

External

Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)

Recent clinical studies

Etiology

Puvanesarajah V, Shapiro JR, Sponseller PD
J Bone Joint Surg Am 2015 Feb 18;97(4):318-25. doi: 10.2106/JBJS.N.00584. PMID: 25695984
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2014 Jul 23;7:CD005088. doi: 10.1002/14651858.CD005088.pub3. PMID: 25054949
Womack J
Adv Neonatal Care 2014 Oct;14(5):309-15; quiz 316-7. doi: 10.1097/ANC.0000000000000094. PMID: 24950034
van der Kley F, Delgado V, Ajmone Marsan N, Schalij MJ
Heart Lung Circ 2014 Aug;23(8):e169-71. Epub 2014 Apr 2 doi: 10.1016/j.hlc.2014.03.025. [Epub ahead of print] PMID: 24791663
Van Dijk FS, Sillence DO
Am J Med Genet A 2014 Jun;164A(6):1470-81. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36545. [Epub ahead of print] PMID: 24715559Free PMC Article

Diagnosis

Harrington J, Sochett E, Howard A
Pediatr Clin North Am 2014 Dec;61(6):1243-57. Epub 2014 Sep 22 doi: 10.1016/j.pcl.2014.08.010. [Epub ahead of print] PMID: 25439022
Womack J
Adv Neonatal Care 2014 Oct;14(5):309-15; quiz 316-7. doi: 10.1097/ANC.0000000000000094. PMID: 24950034
Kulaylat AN, Chesnut CH 3rd, Santos AP, Armen SB
Interact Cardiovasc Thorac Surg 2014 Sep;19(3):518-9. Epub 2014 Jun 4 doi: 10.1093/icvts/ivu191. [Epub ahead of print] PMID: 24899593
Dimitrakakis G, Challoumas D, von Oppell UO
Interact Cardiovasc Thorac Surg 2014 Sep;19(3):499-504. Epub 2014 May 29 doi: 10.1093/icvts/ivu152. [Epub ahead of print] PMID: 24876219
Van Dijk FS, Sillence DO
Am J Med Genet A 2014 Jun;164A(6):1470-81. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36545. [Epub ahead of print] PMID: 24715559Free PMC Article

Therapy

Puvanesarajah V, Shapiro JR, Sponseller PD
J Bone Joint Surg Am 2015 Feb 18;97(4):318-25. doi: 10.2106/JBJS.N.00584. PMID: 25695984
Harrington J, Sochett E, Howard A
Pediatr Clin North Am 2014 Dec;61(6):1243-57. Epub 2014 Sep 22 doi: 10.1016/j.pcl.2014.08.010. [Epub ahead of print] PMID: 25439022
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2014 Jul 23;7:CD005088. doi: 10.1002/14651858.CD005088.pub3. PMID: 25054949
Dimitrakakis G, Challoumas D, von Oppell UO
Interact Cardiovasc Thorac Surg 2014 Sep;19(3):499-504. Epub 2014 May 29 doi: 10.1093/icvts/ivu152. [Epub ahead of print] PMID: 24876219
Götherström C, Westgren M, Shaw SW, Aström E, Biswas A, Byers PH, Mattar CN, Graham GE, Taslimi J, Ewald U, Fisk NM, Yeoh AE, Lin JL, Cheng PJ, Choolani M, Le Blanc K, Chan JK
Stem Cells Transl Med 2014 Feb;3(2):255-64. Epub 2013 Dec 16 doi: 10.5966/sctm.2013-0090. [Epub ahead of print] PMID: 24342908Free PMC Article

Prognosis

Puvanesarajah V, Shapiro JR, Sponseller PD
J Bone Joint Surg Am 2015 Feb 18;97(4):318-25. doi: 10.2106/JBJS.N.00584. PMID: 25695984
Van Dijk FS, Sillence DO
Am J Med Genet A 2014 Jun;164A(6):1470-81. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36545. [Epub ahead of print] PMID: 24715559Free PMC Article
Anissipour AK, Hammerberg KW, Caudill A, Kostiuk T, Tarima S, Zhao HS, Krzak JJ, Smith PA
J Bone Joint Surg Am 2014 Feb 5;96(3):237-43. doi: 10.2106/JBJS.L.01596. PMID: 24500586
Götherström C, Westgren M, Shaw SW, Aström E, Biswas A, Byers PH, Mattar CN, Graham GE, Taslimi J, Ewald U, Fisk NM, Yeoh AE, Lin JL, Cheng PJ, Choolani M, Le Blanc K, Chan JK
Stem Cells Transl Med 2014 Feb;3(2):255-64. Epub 2013 Dec 16 doi: 10.5966/sctm.2013-0090. [Epub ahead of print] PMID: 24342908Free PMC Article
Lu Y, Ren X, Wang Y, Li T, Li F, Wang S, Xu C, Wu G, Li H, Li G, Zhao F, Wang Z, Mo X, Han J
Clin Endocrinol (Oxf) 2014 Apr;80(4):524-31. Epub 2014 Jan 12 doi: 10.1111/cen.12354. [Epub ahead of print] PMID: 24147872

Clinical prediction guides

Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2014 Jul 23;7:CD005088. doi: 10.1002/14651858.CD005088.pub3. PMID: 25054949
Albert C, Jameson J, Smith P, Harris G
Bone 2014 Sep;66:121-30. Epub 2014 Jun 11 doi: 10.1016/j.bone.2014.05.022. [Epub ahead of print] PMID: 24928496
Imbert L, Aurégan JC, Pernelle K, Hoc T
Bone 2014 Aug;65:18-24. Epub 2014 May 5 doi: 10.1016/j.bone.2014.04.030. [Epub ahead of print] PMID: 24803077
Lu Y, Ren X, Wang Y, Li T, Li F, Wang S, Xu C, Wu G, Li H, Li G, Zhao F, Wang Z, Mo X, Han J
Clin Endocrinol (Oxf) 2014 Apr;80(4):524-31. Epub 2014 Jan 12 doi: 10.1111/cen.12354. [Epub ahead of print] PMID: 24147872
Reuter MS, Schwabe GC, Ehlers C, Marschall C, Reis A, Thiel C, Graul-Neumann L
Eur J Med Genet 2013 Dec;56(12):669-73. Epub 2013 Oct 17 doi: 10.1016/j.ejmg.2013.10.002. [Epub ahead of print] PMID: 24140640

Recent systematic reviews

Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2014 Jul 23;7:CD005088. doi: 10.1002/14651858.CD005088.pub3. PMID: 25054949
Dimitrakakis G, Challoumas D, von Oppell UO
Interact Cardiovasc Thorac Surg 2014 Sep;19(3):499-504. Epub 2014 May 29 doi: 10.1093/icvts/ivu152. [Epub ahead of print] PMID: 24876219
Bianchi ML, Leonard MB, Bechtold S, Högler W, Mughal MZ, Schönau E, Sylvester FA, Vogiatzi M, van den Heuvel-Eibrink MM, Ward L; International Society for Clinical Densitometry
J Clin Densitom 2014 Apr-Jun;17(2):281-94. Epub 2014 Mar 19 doi: 10.1016/j.jocd.2014.01.005. [Epub ahead of print] PMID: 24656723
van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G
Eur J Hum Genet 2012 Jan;20(1):11-9. Epub 2011 Aug 10 doi: 10.1038/ejhg.2011.141. [Epub ahead of print] PMID: 21829228Free PMC Article
Bradbury LA, Barlow S, Geoghegan F, Hannon RA, Stuckey SL, Wass JA, Russell RG, Brown MA, Duncan EL
Osteoporos Int 2012 Jan;23(1):285-94. Epub 2011 Jul 8 doi: 10.1007/s00198-011-1658-2. [Epub ahead of print] PMID: 21739105

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