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Caffey disease an unlikely collagenopathy

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Location: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=15864344

Description: J Clin Invest. 2005 May 2; 115(5): 1142¬®C1144Caffey disease: an unlikely collagenopathy Francis H. Glorieux Departments of Surgery, Pediatrics, and Human Genetics, McGill University, and Genetics Unit, Shriners Hospital for Children, Montr¬®¬¶al, Quebec, Canada. Infantile cortical hyperostosis (also known as Caffey disease) is characterized by hyperirritability, acute inflammation of soft tissues, and profound alterations of the shape and structure of the underlying bones, particularly the long bones, mandible, clavicles, or ribs. In this issue of the JCI, Gensure et al. undertook fine mapping of the genetic locus for this disease in a large kindred of individuals with the autosomal dominant form of the condition. The authors found a novel missense mutation in COL1A1, the gene encoding the ¬¶√Ā1 chain of type I collagen, in all affected individuals in 3 discrete pedigrees. This is a surprising finding, as all other reported mutations affecting the synthesis of type I collagen lead to conditions such as osteogenesis imperfecta and Ehlers-Danlos syndrome, in which quantitative or qualitative defects in type I collagen synthesis give rise to bone fragility and/or connective tissue hyperextensibility. The deleterious effect of the mutation on collagen fibril morphology is demonstrated; however, the precise functional link between the reported missense mutation and the localized inflammation and hyperostosis seen in Caffey disease awaits future studies.

Type: Reference Material
Author/Contact: Francis H. Glorieux
Institution: Shriners Hospital for Children, Montr¨¦al, Quebec, Canada
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Language: English

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Added: Thu Nov 30 2006