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A novel locus for X-linked congenital cataract on Xq24.

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 identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers 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 theta=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.

SUBMITTER: Craig JE

PROVIDER: S-EPMC2324122 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

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A novel locus for X-linked congenital cataract on Xq24.

Craig Jamie E JE Friend Kathryn L KL Gecz Jozef J Rattray Kate M KM Troski Mark M Mackey David A DA Burdon Kathryn P KP

Molecular vision 20080418

<h4>Purpose</h4>This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype.<h4>Methods</h4>A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model.<h4>Results</h4>A linkage was detected on Xq24 with t ...[more]

PMID: 18431456

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