Mutations in theCACNA1F andNYX genes in British CSNBX families

Ilaria Zito, Louise E. Allen, Reshma J. Patel, Alfons Meindl, Keith Bradshaw, John R. Yates, Alan C. Bird, Lynda Erskine, Michael E. Cheetham, Andrew R. Webster, Subathra Poopalasundaram, Anthony T. Moore, Dorothy Trump, Alison J. Hardcastle (Corresponding Author)

Research output: Contribution to journalArticle

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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. © 2003 Wiley‐Liss, Inc.
Original languageEnglish
Pages (from-to)169
Number of pages1
JournalHuman Mutation
Volume21
Issue number2
Early online date27 Jan 2003
DOIs
Publication statusPublished - Feb 2003

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Mutation
Genes
Night Vision
Strabismus
Myopia
Genetic Recombination
Visual Acuity
Organism Cloning
Population

Keywords

  • X‐linked congenital stationary night blindness
  • NYX
  • CACNA1F

Cite this

Zito, I., Allen, L. E., Patel, R. J., Meindl, A., Bradshaw, K., Yates, J. R., ... Hardcastle, A. J. (2003). Mutations in theCACNA1F andNYX genes in British CSNBX families. Human Mutation, 21(2), 169. https://doi.org/10.1002/humu.9106

Mutations in theCACNA1F andNYX genes in British CSNBX families. / 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. (Corresponding Author).

In: Human Mutation, Vol. 21, No. 2, 02.2003, p. 169.

Research output: Contribution to journalArticle

Zito, I, Allen, LE, Patel, RJ, Meindl, A, Bradshaw, K, Yates, JR, Bird, AC, Erskine, L, Cheetham, ME, Webster, AR, Poopalasundaram, S, Moore, AT, Trump, D & Hardcastle, AJ 2003, 'Mutations in theCACNA1F andNYX genes in British CSNBX families', Human Mutation, vol. 21, no. 2, pp. 169. https://doi.org/10.1002/humu.9106
Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR et al. Mutations in theCACNA1F andNYX genes in British CSNBX families. Human Mutation. 2003 Feb;21(2):169. https://doi.org/10.1002/humu.9106
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. / Mutations in theCACNA1F andNYX genes in British CSNBX families. In: Human Mutation. 2003 ; Vol. 21, No. 2. pp. 169.
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