Mutations in WNT1 are a cause of osteogenesis imperfecta
โ Scribed by Fahiminiya, Somayyeh (author);Majewski, Jacek (author);Mort, John (author);Moffatt, Pierre (author);Glorieux, Francis H. (author);Rauch, Frank (author)
- Book ID
- 121848168
- Publisher
- BMJ Publishing Group
- Year
- 2013
- Tongue
- English
- Weight
- 238 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0022-2593
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## Abstract Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational process
Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (__COL1A1__ or __COL1A2__) encoding the chains of type
Herein, we have studied a consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR-OI) and a large umbilical hernia. Homozygosity mapping in this family showed lack of linkage to any of the previously known AR-OI genes, but revealed a 10.