Journal Article

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

Kiyomi Taniguchi, Kazuhiro Kobayashi, Kayoko Saito, Hideo Yamanouchi, Akira Ohnuma, Yukiko K. Hayashi, Hiroshi Manya, Dong Kyu Jin, Munhyang Lee, Enrico Parano, Raffaele Falsaperla, Piero Pavone, Rudy Van Coster, Beril Talim, Alice Steinbrecher, Volker Straub, Ichizo Nishino, Haluk Topaloglu, Thomas Voit, Tamao Endo and Tatsushi Toda

in Human Molecular Genetics

Volume 12, issue 5, pages 527-534
Published in print March 2003 | ISSN: 0964-6906
Published online March 2003 | e-ISSN: 1460-2083 | DOI:
Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease

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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.

Journal Article.  4438 words.  Illustrated.

Subjects: Genetics and Genomics

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