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Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp |
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| Authors: | Andreas Gal Albert Schinzel Ulrike Orth Neil A Fraser Florindo Mollica Ian W Craig Torben Kruse Marco Mächler Meinhard Neugebauer Liesbeth M Bleeker-Wagemakers |
| Institution: | 1. Institut für Humangenetik der Universit?t, Wilhelmstrasse 31, D-5300, Bonn 1, Federal Republic of Germany 2. Institut für Medizinische Genetik der Universit?t, R?mistrasse 74, CH-8001, Zürich, Switzerland 3. Genetics Laboratory, Department of Biochemistry, University of Oxford, OX1 3QU, Oxford, UK 4. Cattedra di Pediatria Sociale e Puericultura, Universita di Catania, Viale A, Doria, I-95125, Catania, Italy 5. Institute for Human Genetics, Bartholin Bygningen, University of Aarhus, DK-8000, Aarhus C, Denmark 6. Institut für Medizinische Statistik der Universit?t, Sigmund-Freud-Strasse 25, D-5300, Bonn 1, Federal Republic of Germany 7. Ophthalmogenetic Department, The Netherlands Ophthalmic Research Institute, P. O. Box 12141, NL-1100 AC, Amsterdam, The Netherlands |
| Abstract: | Summary Congenital stationary night blindness is characterized by 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. |
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