Rare Diseases News Briefs for Week of May 6, 2001
Genetic defect identified in craniometaphyseal dysplasiaBiomedicine: Bone Remodeling Gone Awry
Science, Volume 292, Issue 5518, May 4, 2001
Paula A. Kiberstis
Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by overgrowth of bones, especially in the head and facial area. Children with this disorder, which was brought into the public eye through the movie Mask, are severely disfigured and can also suffer from visual and neurological damage caused by progressive and uncontrolled bone thickening.
Now Reichenberger et al. have identified the genetic defect responsible for the autosomal dominant form of CMD. The causative mutations lie in the ANK gene, on chromosome 5p, which encodes a multispanning transmembrane protein previously linked in mouse studies to transport of intracellular pyrophosphate (PPi) into the extracellular matrix (see Ho et al., Research Articles, 14 July 2000, p. 265). The authors speculate that alterations in transport of PPi disrupt the finely tuned balance of bone resorption and regrowth (remodeling) that occurs throughout life. Discovery of the importance of this gene in CMD may eventually lead to the development of drug therapies for the disease and for other related skeletal disorders.
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