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

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 journal › Article › peer-review

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.

Original language	English
Pages (from-to)	721-726
Number of pages	6
Journal	Molecular Vision
Volume	14
Publication status	Published or Issued - 2008
Externally published	Yes

ASJC Scopus subject areas

Ophthalmology

Cite this

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title = "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 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.",

author = "Craig, {Jamie E.} and Friend, {Kathryn L.} and Jozef Gecz and Rattray, {Kate M.} and Mark Troski and Mackey, {David A.} and Burdon, {Kathryn P.}",

year = "2008",

language = "English",

volume = "14",

pages = "721--726",

journal = "Molecular Vision",

issn = "1090-0535",

publisher = "Molecular Vision",

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TY - JOUR

T1 - A novel locus for X-linked congenital cataract on Xq24

AU - Craig, Jamie E.

AU - Friend, Kathryn L.

AU - Gecz, Jozef

AU - Rattray, Kate M.

AU - Troski, Mark

AU - Mackey, David A.

AU - Burdon, Kathryn P.

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

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M3 - Article

C2 - 18431456

AN - SCOPUS:42649092896

SN - 1090-0535

VL - 14

SP - 721

EP - 726

JO - Molecular Vision

JF - Molecular Vision

ER -

A novel locus for X-linked congenital cataract on Xq24

Abstract

ASJC Scopus subject areas

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