Prenatal diagnosis of Fukuyama congenital muscular dystrophy.
Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. FCMD is recognized as an autosomal recessive genetic defect. Genetic counselling is recommended for parents at risk of having a child with FCMD. Given the high risk and overwhelming prospect of having another child with this incurable devastating condition leads many couples to consider prenatal diagnosis. In Japanese families, haplotype analysis using microsatellite markers is available. In non-Japanese families, DNA sequence analysis is available. Both disease-causing alleles of an affected family member must be identified before prenatal testing can be performed.
Saito
Kayoko
K
Institute of Medical Genetics, Tokyo Women's Medical University, 10-22 Kawadacho, Shinjuku, Tokyo 162-0054, Japan. saito@img.twmu.ac.jp
D005260:Female; D006239:Haplotypes; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis
C113587:FKTN protein, human; D008565:Membrane Proteins