Osteogenesis Imperfecta, Type 1
Disorder | |
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OMIM #: | #166200 (Click to access OMIM database) |
Disorder: | Osteogenesis Imperfecta, Type 1 |
Also known as: | OI, TYPE I, OI1, OSTEOGENESIS IMPERFECTA TARDA, OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE |
Clinical | |
Phenotype: | multiple bone fractures caused by minor trauma, blue sclerae, hearing impairment, thin skin, other bleeding tendency, kyphoscoliosis, hernias, ossification abnormalities, mitral valve prolapse |
Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
Remarks: | Autosomal dominant |
Mutations | |
ReferencesJeong Y, Carleton SM, Gentry BA, Yao X, Ferreira JA, Salamango DJ, Weis M, Oestreich AK, Williams AM, McCray MG, Eyre DR, Brown M, Wang Y, Phillips CL. (2015) Hindlimb Skeletal Muscle Function and Skeletal Quality and Strength in +/G610C Mice With and Without Weight-Bearing Exercise. J Bone Miner Res Oct;30(10):1874-86. PubMed ID: 25829218 McBride D, Streeten EA, Mitchell BD, Shuldiner AR. (2002) Variable expressivity of a COL1A2 gly-610-cys mutation in a large Amish pedigree. Am J Hum Genet 71 (abstr #1047): 351. 1 Amish |
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Gene: | COL1A2 |
Base Change: | G>T, at nucleotide 2098 |
Amino Acid Change: | gly 700 --> cys |
Last updated: | 2022-11-10 |
References |
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Daley E, Streeten EA, Sorkin JD, Kuznetsova N, Shapses SA, Carleton SM, Shuldiner AR, Marini JC, Phillips CL, Goldstein SA, Leikin S, McBride DJ Jr. (2010) Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model. J Bone Miner Res Feb;25(2):247-61. PubMed ID: 19594296 |
Jeong Y, Carleton SM, Gentry BA, Yao X, Ferreira JA, Salamango DJ, Weis M, Oestreich AK, Williams AM, McCray MG, Eyre DR, Brown M, Wang Y, Phillips CL. (2015) Hindlimb Skeletal Muscle Function and Skeletal Quality and Strength in +/G610C Mice With and Without Weight-Bearing Exercise. J Bone Miner Res Oct;30(10):1874-86. PubMed ID: 25829218 |
McBride D, Streeten EA, Mitchell BD, Shuldiner AR. (2002) Variable expressivity of a COL1A2 gly-610-cys mutation in a large Amish pedigree. Am J Hum Genet 71 (abstr #1047): 351. |
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