title: Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.
abstract: X-linked hydrocephalus is a well-defined disorder which accounts for > or = 7% of hydrocephalus in males. Pathologically, the condition is characterized by stenosis or obliteration of the aqueduct of Sylvius. Previous genetic linkage studies have suggested the likelihood of genetic homogeneity for this condition, with close linkage to the DXS52 and F8C markers in Xq28. We have investigated a family with typical X-linked aqueductal stenosis, in which no linkage to these markers was present. In this family, close linkage was established to the DXS548 and FRAXA loci in Xq27.3. Our findings demonstrate that X-linked aqueductal stenosis may result from mutations at two different loci on the X chromosome. Caution is indicated in using linkage for the prenatal diagnosis of X-linked hydrocephalus.
authors.affiliation: Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
authors.forename: L
authors.initials: L
authors.lastname: Strain
authors.forename: C M
authors.initials: CM
authors.lastname: Gosden
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
authors.forename: D T
authors.initials: DT
authors.lastname: Bonthron
mesh_terms: D002478:Cells, Cultured; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014960:X Chromosome
chemical_list: D005819:Genetic Markers