Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)

Ophthalmic Genetics
Simon P BrooksAlison J Hardcastle

Abstract

The X-linked congenital cataract (CXN) locus has been mapped to a 3-cM (approximately 3.5 Mb) interval on chromosome Xp22.13, which is syntenic to the mouse cataract disease locus Xcat and encompasses the recently refined Nance-Horan syndrome (NHS) locus. A positional cloning strategy has been adopted to identify the causative gene. In an attempt to refine the CXN locus, seven microsatellites were analysed within 21 individuals of a CXN family. Haplotypes were reconstructed confirming disease segregation with markers on Xp22.13. In addition, a proximal cross-over was observed between markers S3 and S4, thereby refining the CXN disease interval by approximately 400 Kb to 3.2 Mb, flanked by markers DXS9902 and S4. Two known genes (RAI2 and RBBP7) and a novel gene (TL1) were screened for mutations within an affected male from the CXN family and an NHS family by direct sequencing of coding exons and intron- exon splice sites. No mutations or polymorphisms were identified, therefore excluding them as disease-causative in CXN and NHS. In conclusion, the CXN locus has been successfully refined and excludes PPEF1 as a candidate gene. A further three candidates were excluded based on sequence analysis. Future positional cloning efforts ...Continue Reading

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Citations

May 6, 2009·Human Molecular Genetics·Margherita CocciaAlison J Hardcastle
Nov 28, 2009·Ophthalmic Genetics·Xiaoyan DingChi-Chao Chan
Sep 13, 2016·American Journal of Medical Genetics. Part a·Hans GjørupJohn R Ostergaard
Jun 1, 2006·European Journal of Human Genetics : EJHG·Ralph J FlorijnArthur A B Bergen
Oct 1, 2010·Journal of Human Genetics·Hsiao-Mei LiaoChia-Hsiang Chen
Feb 7, 2018·Scientific Reports·Huajin LiRuifang Sui
Apr 20, 2021·European Journal of Human Genetics : EJHG·Johanna L JonesKathryn P Burdon

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