An intergenerational contraction of the CTG repeat in Japanese myotonic dystrophy

We present the first report of a Japanese family with myotonic dystrophy (DM) that showed an intergenerational contraction of the CTG repeat. The size of the expanded CTG repeats was 3.2 kb for the father and 2.2 kb for the daughter, indicating that the expansion decreased during transmission from the father to the daughter. Despite the CTG repeat contraction, the daughter showed earlier age of onset than the father. However, she appeared to be less severely affected than the father. We discuss the correlation between the CTG repeat contraction and the clinical phenotype. The presence of the CTG repeat contraction in Japanese DM is important for genetic counseling of Japanese DM families.