A novel locus for X-linked congenital cataract on Xq24.
OBJECTIVE
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.
Craig
Jamie E
JE
Department of Ophthalmology, Flinders University, Adelaide, SA, Australia.
Friend
Kathryn L
KL
Gecz
Jozef
J
Rattray
Kate M
KM
Troski
Mark
M
Mackey
David A
DA
Burdon
Kathryn P
KP
D000293:Adolescent; D002386:Cataract / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D014070:Tooth / Q000473:pathology