A novel locus for X-linked congenital cataract on Xq24

Jamie E. Craig, Kathryn L. Friend, Jozef Gecz, Kate M. Rattray, Mark Troski, David A. Mackey, Kathryn P. Burdon

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Purpose: This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype. Methods: A large three-generation family with lamellar and nuclear cataract in five affected males was idemtified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markets at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model. Results: A linkage was detected on Xq24 with the maximum LOD score of 2.53 at 0-0 for DXS1001. The minimal region was defined as 11.5 Mb between markers DXS8055 and DXS8009 through critical recombination events in multiple individuals. Conclusions: A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome.

LanguageEnglish
Pages721-726
Number of pages6
JournalMolecular Vision
Volume14
Publication statusPublished - 5 May 2008
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Craig, J. E., Friend, K. L., Gecz, J., Rattray, K. M., Troski, M., Mackey, D. A., & Burdon, K. P. (2008). A novel locus for X-linked congenital cataract on Xq24. Molecular Vision, 14, 721-726.
Craig, Jamie E. ; Friend, Kathryn L. ; Gecz, Jozef ; Rattray, Kate M. ; Troski, Mark ; Mackey, David A. ; Burdon, Kathryn P. / A novel locus for X-linked congenital cataract on Xq24. In: Molecular Vision. 2008 ; Vol. 14. pp. 721-726.
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Craig, JE, Friend, KL, Gecz, J, Rattray, KM, Troski, M, Mackey, DA & Burdon, KP 2008, 'A novel locus for X-linked congenital cataract on Xq24', Molecular Vision, vol. 14, pp. 721-726.

A novel locus for X-linked congenital cataract on Xq24. / Craig, Jamie E.; Friend, Kathryn L.; Gecz, Jozef; Rattray, Kate M.; Troski, Mark; Mackey, David A.; Burdon, Kathryn P.

In: Molecular Vision, Vol. 14, 05.05.2008, p. 721-726.

Research output: Contribution to journalArticle

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Craig JE, Friend KL, Gecz J, Rattray KM, Troski M, Mackey DA et al. A novel locus for X-linked congenital cataract on Xq24. Molecular Vision. 2008 May 5;14:721-726.