Amish, Mennonite, and Hutterite
Genetic Disorder Database

Osteogenesis Imperfecta, Type 1

Disorder
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, normal teeth, hearing impairment, thin skin, other bleeding tendency, kyphoscoliosis, hernias, ossification abnormalities 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
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  
Gene: COL1A2
Base Change: G>T, at nucleotide 2098
Amino Acid Change: gly 700 --> cys
Last updated: 2019-12-06 

References
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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