## Communicated by Peter Byers Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the a1 and a2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural mutations in a1(I) or a2(I) lea
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients
✍ Scribed by Heini Hartikka; Kaija Kuurila; Jarmo Körkkö; Ilkka Kaitila; Reidar Grénman; Seppo Pynnönen; James C. Hyland; Leena Ala-Kokko
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 58 KB
- Volume
- 24
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
The original article to which this Erratum refers was published in Human Mutation 24: 147-154 (2004).
In Table 1 of the published original article, the fourth mutation should be c.913G4C (not c.913G4A as originally printed) and it should be bolded as it is a novel mutation. In addition, the last mutation, c.3076C4T (COL1A1) was not found to be a novel mutation, and it should not be bolded.
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Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin
Osteogenesis imperfecta (OI) is a heritable disease of bone characterized by low bone mass and bone fragility. Six different types of OI have been described to date, based on clinical phenotype and histological findings. The genetic defect in many patients with OI types I-IV is due to mutations in t