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 (McKusick 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 theta = 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.
Gregg
R G
RG
Waisman Center for Mental Retardation and Human Development, University of Wisconsin-Madison 53706.
Metzenberg
A B
AB
Hogan
K
K
Sekhon
G
G
Laxova
R
R
D001480:Basal Ganglia Diseases / Q000150:complications / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome