title: Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp.
abstract: Congenital stationary night blindness is characterized disturbed or absent night vision that is always present at or shortly after birth and nonprogressive. The X-linked form of the disease (CSNBX; McKusick catalog no. 31050) differs from the autosomal types in that the former is frequently associated with myopia. X-chromosome-specific polymorphic DNA markers were used to carry out linkage analysis in three European families segregating for CSNBX. Close linkage without recombination was found between the disease locus and the anonymous locus DXS7, mapped to Xp11.3, assigning the mutation to the proximal short arm of the X chromosome. Linkage data obtained with markers flanking DXS7 provided further support for this localization of the gene locus. Thus, in addition to retinitis pigmentosa and Norrie disease, CSNBX represents the third well-known hereditary eye disease the locus of which is mapped on the proximal Xp and closely linked to DXS7.
authors.affiliation: Institut für Humangenetik der Universität, Bonn, Federal Republic of Germany.
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: N A
authors.initials: NA
authors.lastname: Fraser
authors.forename: F
authors.initials: F
authors.lastname: Mollica
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
authors.forename: T
authors.initials: T
authors.lastname: Kruse
authors.forename: M
authors.initials: M
authors.lastname: Mächler
authors.forename: M
authors.initials: M
authors.lastname: Neugebauer
authors.forename: L M
authors.initials: LM
authors.lastname: Bleeker-Wagemakers
mesh_terms: D002874:Chromosome Mapping; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers