Article
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
Human mutation - 1 Aug 2004
Hartikka Heini, Kuurila Kaija, Körkkö Jarmo, Kaitila Ilkka, Grénman Reidar, Pynnönen Seppo, Hyland James C, Ala-Kokko Leena
Abstract excerpt
Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the alpha1 and alpha2 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 alpha1(I) or alpha2(I) lead to more severe OI types (II-IV). However, correlative analysis between mutation types and OI associated hearing loss has not been...
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