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Monday 28th May 2018

Brittle bone gene found

2nd January 2007

A fatal form of brittle bone disease which can kill babies has been linked to a genetic defect, according to researchers at the US National Institutes of Health.

The findings, published in the New England Journal of Medicine, will allow affected families to be tested for the gene.

All forms of the condition, also called Osteogenesis Imperfecta, weaken bones causing frequent fractures. It occurs in around one in 15,000-20,000 births.

In about a quarter of cases, children may die at or shortly after birth. Others with the disease must live with bones that fracture more easily than other people's.

The disease is linked to a gene which carries the information for cartilage assoicated protein. In three samples of children who died in their first year of life, both parents carried one defective gene and one normal. The recessive defective genes combined in the affected child, researchers said.


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