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Muscle–eye–brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps substantially with those of Fukuyama-type congenital muscular dystrophy (FCMD) and Walker–Warburg syndrome (WWS), these three diseases are thought to result from a similar pathomechanism. Recently, we showed that MEB is caused by mutations in the protein  O -linked mannose β1,2- N -acetylglucosaminyltransferase 1 ( POMGnT1 ) gene. We describe here the identification of seven novel disease-causing mutations in six of not only non-Finnish Caucasian but also Japanese and Korean patients with suspected MEB, severe FCMD or WWS. Including six previously reported mutations, the 13 disease-causing mutations we have found thus far are dispersed throughout the entire  POMGnT1  gene. We also observed a slight correlation between the location of the mutation and clinical severity in the brain: patients with mutations near the 5′ terminus of the  POMGnT1  coding region show relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3′ terminus have milder phenotypes. Our results indicate that MEB may exist in population groups outside of Finland, with a worldwide distribution beyond our expectations, and that the clinical spectrum of MEB is broader than recognized previously. These findings emphasize the importance of considering MEB and searching for  POMGnT1  mutations in WWS or other congenital muscular dystrophy patients worldwide.

Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease