Mutation analysis of the MCM gene in Israeli patients with mut(0) disease

Three novel mutations (IVS8+3a --> g, N219Y, and E414X) were identified in 6 unrelated patients with mut(0) methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a -- > g mutation may contribute to their later age of onset (3-11 months of age ). Nonetheless, delayed onset was not associated with better neurological o utcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region. (C) 2001 Academic Press.