title: Mutations in the CACNA1F and NYX genes in British CSNBX families.
abstract: X-linked congenital stationary night blindness (CSNBX) is a genetically and phenotypically heterogeneous non-progressive disorder, characterised by impaired night vision but grossly normal retinal appearance. Other more variable features include reduction in visual acuity, myopia, nystagmus and strabismus. Genetic mapping studies by other groups, and our own studies of British patients, identified key recombination events indicating the presence of at least 2 disease genes on Xp11. Two causative genes (CACNA1F and NYX) for CSNBX have now been identified through positional cloning strategies. In this report, we present the results of comprehensive mutation screening in 14 CSNBX families, three with mutations in the CACNA1F gene and 10 with mutations in the NYX gene. In one family we failed to identify the mutation after testing RP2, RPGR, NYX and CACNA1F. NYX gene mutations are a more frequent cause of CSNBX, although there is evidence for founder mutations. Our report of patient population mutation screening for both CSNBX genes, and our exclusion of RP2 and RGPR, indicates that mutations in CACNA1F and NYX are likely to account for all CSNBX.
authors.affiliation: Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Zito
authors.forename: Louise E
authors.initials: LE
authors.lastname: Allen
authors.forename: Reshma J
authors.initials: RJ
authors.lastname: Patel
authors.forename: Alfons
authors.initials: A
authors.lastname: Meindl
authors.forename: Keith
authors.initials: K
authors.lastname: Bradshaw
authors.forename: John R
authors.initials: JR
authors.lastname: Yates
authors.forename: Alan C
authors.initials: AC
authors.lastname: Bird
authors.forename: Lynda
authors.initials: L
authors.lastname: Erskine
authors.forename: Michael E
authors.initials: ME
authors.lastname: Cheetham
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Webster
authors.forename: Subathra
authors.initials: S
authors.lastname: Poopalasundaram
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.forename: Dorothy
authors.initials: D
authors.lastname: Trump
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Hardcastle
mesh_terms: D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D018703:Founder Effect; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D009154:Mutation / Q000235:genetics*; D009755:Night Blindness / Q000151:congenital / Q000235:genetics; D010375:Pedigree; D011509:Proteoglycans / Q000235:genetics*; D006113:United Kingdom
chemical_list: C113330:CACNA1F protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; C416505:NYX protein, human; D011509:Proteoglycans