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 | |
| 1 Amish | |
| Gene: | COL1A2 |
| Base Change: | G>T, at nucleotide 2098 |
| Amino Acid Change: | gly 610 --> cys |
| Last updated: | 2010-07-22 |
| References |
|---|
| McBride D, Streeten EA, Mitchell BD, and 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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