WAISMAN SYNDROME, A HUMAN X-LINKED RECESSIVE BASAL GANGLIA DISORDER WITH MENTAL-RETARDATION - LOCALIZATION TO XQ27.3-QTER

Linkage of the gene responsible for an X-linked early onset parkinsonism disorder with mental retardation (MeKusick 311510) to DNA probes that detect restriction fragment length polymorphisms is described. The disease gene is linked to the F8C gene, and to DNA probes detecting polymorphic loci DXS52, DXS15, DXS134, and DXS374 with maximum lod scores at θ = 0 of 5.08, 5.19, 5.00, 5.03, and 4.46, respectively. Multipoint linkage analysis gives a maximum multipoint lod score of 6.75 at the F8C gene. This places the disease gene in chromosomal region Xq27.3-qter. © 1991.