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Clinical DNA Diagnostic Testing for Cockayne  Syndrome and Functional Analysis of Pathogenic Mutations.

"Cockayne syndrome (CS) is a tragic, rare, inherited disease of childhood, for which there is currently no treatment. CS is predominantly caused by mutations in either of two genes, the CSA gene or the CSB gene. Affected patients suffer from growth failure, increased sensitivity to the sun, various somatic changes that resemble premature aging, and a progressive degeneration of the nervous system that leads to increasing handicaps over time. Most patients die in childhood. Despite these protean manifestations, the correct diagnosis is often delayed (or missed altogether) because of the rarity of CS, its progressive nature, and the significant variability that exists between cases, with some children having a very severe disease that is apparent at birth and other children developing somewhat milder symptoms over a period of several years. Prior to the onset of this project, no confirmatory clinical diagnostic testing for CS was available in the United States. With this support from NORD, we have developed and now offer clinical diagnostic laboratory testing for CS, using a combination of methods to identify mutations in the CSA or CSB genes. By collecting clinical information about a growing number of patients with CS who have been identified as having specific CSA or CSB gene mutations, we are also seeking to understand the mechanisms at work in producing the symptoms of CS and why it is that some cases of CS are much more severe than others. This should open the way to a better understanding of CS and, ultimately, the development of an effective therapy."


Edward G. Neilan, M.D., PH.D.

Instructor in Pediactrics, Harvard Medical School

Staff Physician, Genetics & Metabolism, Children's Hospital Boston




March 30, 2015