MOLECULAR-GENETICS OF NEUROLOGICAL DISEASE

The gene for von Recklinghausen neurofibromatosis [(NF)-1] has been cloned and evidence is accumulating that the NF-1 protein plays a role in the regulation of Ras protein function. Germ line mutations in the p53 gene were detected in family members of patients with the Li-Fraumeni syndrome, suggesting that the presence of a mutant p53 allele may be responsible for the increased risk of cancer in these families. The facioscapulohumeral muscular dystrophy locus has been assigned to 4q35-qter. In the fragile X syndrome, a breakpoint cluster region that exhibits DNA fragment length variation and hypermethylation was detected within the coding region of a candidate gene, designated fragile X mental retardation (FMR)-1].