ELECTRONIC LETTER

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

C Diesen¹, A Saarinen¹, H Pihko², C Rosenlew¹, B Cormand³, W B Dobyns⁴, J Dieguez¹, L Valanne⁵, T Joensuu¹, A-E Lehesjoki¹

¹ Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Centre, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
² Department of Paediatric Neurology, University of Helsinki
³ Department of Genetics, Faculty of Biology, University of Barcelona, Barcelona, Spain
⁴ Departments of Human Genetics, Neurology and Pediatrics, University of Chicago, Chicago, Illinois, USA
⁵ Department of Radiology, University of Helsinki

Correspondence to:
Correspondence to:
Dr Anna-Elina Lehesjoki
Folkhälsan Institute of Genetics, Biomedicum Helsinki, PO Box 63 (Haartmaninkatu 8), FIN-00014 University of Helsinki, Finland; anna-elina.lehesjoki@helsinki.fi

Abbreviations: CDG, congenital disorder of glycosylation; CEPH, Centre d’Etude du Polymorphisme Humaine; FCMD, Fukuyama congenital muscular dystrophy; MEB, muscle-eye-brain disease; PCR, polymerase chain reaction; RT-PCR, reverse transcriptase polymerase chain reaction; SSCP, single strand conformation polymorphism; WWS, Walker–Warburg syndrome

Keywords: muscle-eye-brain disease (MEB); POMGnT1; congenital muscular dystrophy; neuronal migration defect

The first 150 words of the full text of this article appear below.

Muscle-eye-brain disease (MEB; OMIM 253280) was first described in 1977 in Finland,¹ where it is enriched because of founder effect and genetic isolation.² MEB is now known to occur throughout the world, but Finland remains the country with the largest group of MEB patients.

MEB patients present as floppy infants with visual problems and severe mental retardation. The hypotonia is partly caused by muscular dystrophy and partly by cerebral dysfunction. Hypotonia is replaced by spasticity and contractures with increasing age.^1,3 Visual failure is the result of progressive myopia, retinal degeneration, and congenital glaucoma. Juvenile cataracts develop by the age of 10 years. The presence of giant visual evoked potentials is an important diagnostic feature.⁴ The typical central nervous system malformation revealed by magnetic resonance imaging (MRI), referred to as "cobblestone complex",⁵ consists of cobblestone cortex, midline deformities, flat brain stem, mild cerebellar hypoplasia, and cerebellar cortical cysts.⁶ Microscopically the . . . [Full text of this article]

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