Medical

07/11/2006 Genetic Mutation Explains Form of Brittle Bone Disease.

New research has identified a gene mutation that helps explain some types of OI. This is a significant finding as the mutation is not in type 1 collagen and cannot therfore be identified by current tests

This new mutation may be helpful for children and families who are facing accussations of child abuse and the child has not been tested positive for the known mutations related to OI.

It is thought that this adds a new dimension to DNA tests for OI and may explain up to 15% of OI cases.

For a brief article go to HHMI News: Genetic Mutation Explains Form of Brittle Bone Disease

Or you can read a full copy of the paper here CRTAP Cell paper Final