Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy |
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Authors: | E Kondo-Iida Kayoko Saito Hajime Tanaka Shoji Tsuji Tadayuki Ishihara Makiko Osawa Yukio Fukuyama Tatsushi Toda |
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Institution: | (1) Department of Pediatrics, Tokyo Women’s Medical College, 8-1 Kawadacho, Shinjuku-ku, Tokyo 162, Japan Tel.: +8133353-8111; Fax: +8135269-7338, JP;(2) Department of Neurology, Brain Research Institute, Niigata University, Niigta, Japan, JP;(3) Division of Internal Medicine, National Higashisaitama Hospital, Saitama, Japan, JP;(4) Department of Human Genetics, University of Tokyo, Tokyo, Japan, JP |
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Abstract: | Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy associated with brain
malformation. The gene responsible for FCMD was mapped to chromosome 9q31, a region in which convincing evidence of strong
linkage disequilibrium between FCMD and mfd220 (D9S306) was recently found. FCMD is also characterized clinically by a peak
motor function which, at best, allows patients to sit unassisted or slide on the buttocks. However, a small fraction of patients
acquire the capacity to walk unassisted. Whether such ambulant cases belong to the FCMD spectrum or to a different disease
entity has been a topic of considerable debate. We performed linkage analysis for ten families with ambulant cases using DNA
markers flanking the FCMD locus. The mfd220 locus yielded a significant lod score of 3.09 for ambulant FCMD. We also found
evidence for linkage disequilibrium between ambulant FCMD and mfd220. We further conducted haplotype analysis in FCMD siblings
with different phenotypes, one of whom was ambulant while the other was not. The results indicate that the FCMD siblings share
exactly the same haplotype at nine marker loci spanning 23.3 cM surrounding the FCMD locus. On the basis of these results,
we conclude that, genetically, ambulant cases are, in fact, part of the FCMD spectrum.
Received: 28 June 1996 |
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