title: Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
abstract: OBJECTIVE
  Proximal Xp harbors many inherited retinal disorders, including retinitis pigmentosa (RP) and congenital stationary night blindness, both of which display genetic heterogeneity. X-linked congenital stationary night blindness (CSNBX) is a nonprogressive disease causing night blindness and reduced visual acuity. Distinct genetic loci have been reported for CSNBX at Xp21.1, which is potentially allelic with the RP3 gene, and at Xp11.23, which is potentially allelic with the RP2 gene. The study to identify the RP2 gene led to an extended study of families with potentially allelic diseases that include CSNBX.
  
  
  METHODS
  Haplotype analysis of a family diagnosed with CSNBX was performed with 17 polymorphic markers on proximal Xp covering previously identified loci for CSNBX and XLRP. Two-point and multipoint lod scores were calculated.
  
  
  RESULTS
  Informative recombinations in this family define a locus for CSNBX (CSNB4) with flanking markers DXS556 and DXS8080 on Xp11.4 to Xp11.3, an interval spanning approximately 5 to 6 cM. A maximum lod score of 3.2 was calculated for the locus order DXS556-1 cM-(CSNB4-DXS993)-2 cM-DXS1201.
  
  
  CONCLUSIONS
  The results describe a new localization for CSNBX (CSNB4) between the RP2 and RP3 loci on proximal Xp. CSNB4 is not allelic with any previously reported XLRP loci; however, the interval overlaps the locus reported to contain the cone dystrophy (COD1) gene, and both diseases are nonrecombinant with DXS993. Because mutations in the RPGR gene to date account for disease in only a small proportion of RP3 families, the possibility that this new locus (CSNB4) also segregates with an as yet unidentified XLRP locus cannot be excluded.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom.
authors.forename: A J
authors.initials: AJ
authors.lastname: Hardcastle
authors.forename: Z K
authors.initials: ZK
authors.lastname: David-Gray
authors.forename: M
authors.initials: M
authors.lastname: Jay
authors.forename: A C
authors.initials: AC
authors.lastname: Bird
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D005136:Eye Proteins / Q000235:genetics; D019204:GTP-Binding Proteins; D008040:Genetic Linkage / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins; D009755:Night Blindness / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins; C072178:RP2 protein, human; C099929:RPGR protein, human; D004247:DNA; D019204:GTP-Binding Proteins