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From the Department of Medical Genetics (Drs. Cormand, Lehesjoki, and Bayés), University of Helsinki; Department of Pediatric Neurology (Drs. Pihko, Valanne, and Santavuori), Hospital for Children and Adolescents, University of Helsinki; Department of Molecular Genetics, Folkhälsan Institute of Genetics (Drs. Cormand and Lehesjoki), Helsinki, Finland; Department of Pediatric Neurology, Hacettepe Children’s Hospital, Ankara, Turkey (Drs. Talim and Topaloglu); Department of Human Genetics, Rambam Medical Center, Haifa, Israel (Dr. Gershoni-Baruch); Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC (Dr. Ahmad); Department of Human Genetics, Neurology, and Pediatrics, University of Chicago, IL (Dr. Dobyns); Department of Human Genetics, University Hospital Nijmegen, the Netherlands (Drs. Van Bokhoven and Brunner); and Department of Pediatrics and Pediatric Neurology, University of Essen, Germany (Dr. Voit).
Address correspondence and reprint requests to Dr. B. Cormand, Departament de Ciencies Experimentals i de la Salut (CEXS), Universitat Pompeu Fabra, c/Doctor Aiguader 80, 08003 Barcelona, Spain; e-mail: bcormand{at}imim.es
BACKGROUND: Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle–eye-brain disease (MEB), Walker–Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. Lack of consistent ocular abnormalities in FCMD has allowed a clear clinical demarcation of this syndrome, whereas the phenotypic distinction between MEB and WWS has remained controversial. The MEB gene is located on chromosome 1p32-p34.
OBJECTIVES: To establish distinguishing diagnostic criteria for MEB and WWS and to determine whether MEB and WWS are allelic disorders.
METHODS: The authors undertook clinical characterization followed by linkage analysis in 19 MEB/WWS families with 29 affected individuals. With use of clinical diagnostic criteria based on Finnish patients with MEB, each patient was categorized as having either MEB or WWS. A linkage and haplotype analysis using 10 markers spanning the MEB locus was performed on the entire family resource.
RESULTS: Patients in 11 families were classified as having MEB and in 8 families as WWS. Strong evidence in favor of genetic heterogeneity was obtained in the 19 families. There was evidence for linkage to 1p32-p34 in all but 1 of the 11 pedigrees segregating the MEB phenotype. In contrast, linkage to the MEB locus was excluded in seven of eight of the WWS families.
CONCLUSION: These results allow the classification of MEB and WWS as distinct disorders on both clinical and genetic grounds and provide a basis for the mapping of the WWS gene(s).
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