Mutations in the CACNA1F and NYX genes in British CSNBX families.
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.
Zito
Ilaria
I
Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK.
Allen
Louise E
LE
Patel
Reshma J
RJ
Meindl
Alfons
A
Bradshaw
Keith
K
Yates
John R
JR
Bird
Alan C
AC
Erskine
Lynda
L
Cheetham
Michael E
ME
Webster
Andrew R
AR
Poopalasundaram
Subathra
S
Moore
Anthony T
AT
Trump
Dorothy
D
Hardcastle
Alison J
AJ
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
C113330:CACNA1F protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; C416505:NYX protein, human; D011509:Proteoglycans