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Mutations in the CACNA1F and NYX genes in British CSNBX families
Author(s) -
Zito Ilaria,
Allen Louise E.,
Patel Reshma J.,
Meindl Alfons,
Bradshaw Keith,
Yates John R.,
Bird Alan C.,
Erskine Lynda,
Cheetham Michael E.,
Webster Andrew R.,
Poopalasundaram Subathra,
Moore Anthony T.,
Trump Dorothy,
Hardcastle Alison J.
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9106
Subject(s) - genetics , biology , frameshift mutation , gene , mutation , human genetics , positional cloning , retinal disorder , population , phenotype , medicine , retinal , biochemistry , environmental health
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. © 2003 Wiley‐Liss, Inc.