Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Cockayne Syndrome (CS) is a rare inherited disorder with severe problems of growth and development in many parts of the body, as well as causing sun-sensitivity. In a four-centre study from scientists in Nagoya, Japan, Strasbourg, France, Pavia, Italy and Sussex, UK, we have identified the genetic mutations causing the disorder in 124 CS patients with different disease severity and ethnic backgrounds, and found 70 previously unreported mutations. Our study provides information relevant for diagnosis and genetic counselling, and will be of help in prognosis of this devastating disorder. (By Professor Alan Lehmann, http://jmg.bmj.com/content/early/2018/03/22/jmedgenet-2017-104877 )

(Visited 15 times, 1 visits today)