September, 1 1999
We are conducting research on the biology and genetic basis of Rothmund-Thomson Syndrome (RTS) which is a rare medical disorder characterized by poikiloderma, small stature, skeletal dysplasias, juvenile cataracts, and increased risk of certain types of cancers. Mutations in the RTS gene have recently been identified, and we are performing mutational analysis on a research basis on patients with RTS. We are also interested in better defining the clinical phenotype and appropriate medical management of these patients, and are pursuing genotype-phenotype correlation studies and determining whether genetic heterogeneity exists for this disorder. We are identifying patients and families with Rothmund-Thomson syndrome anywhere in the U. S. or internationally.