Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.
X linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterised by decreased visual acuity and disturbance of night vision. CSNBX appears to be not only clinically but also genetically heterogeneous. On studying a single large family, we recently suggested the presence of a distinct locus for CSNBX in Xp21.1. Here, we describe the results of a linkage analysis in another large CSNBX family, which confirms this finding. Thus, the data presented here provide conclusive evidence for a distinct CSNBX locus in Xp21.1, closely linked to the X linked retinitis pigmentosa type 3 gene. The results combined with other published results indicate the order Xpter-DXS451-DMD-DYS1-(DXS1110, CSNBX1, XLRP3)-DXS7-(CSNBX2, XLRP2)-DXS14-Xcen.
Bergen
A A
AA
Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands.
ten Brink
J B
JB
Riemslag
F
F
Schuurman
E J
EJ
Meire
F
F
Tijmes
N
N
de Jong
P T
PT
D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome
D004247:DNA