A new recessive form of the bone disorder osteogenesis imperfecta has been identified by US researchers. They sequenced the gene encoding an enzyme called P3H1 in five individuals with severe or lethal abnormal bone development. They found that mutations that either significantly reduced or eliminated the amount of P3H1 were found in all individuals. They concluded that P3H1 chemically modifies a single amino acid in type 1 collagen, which facilitates folding and promotes stability (Nature Genetics Online 2007).
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