Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family.
OBJECTIVE
To map a gene responsible for infantile cataract in a large four-generation, non-consanguineous Chinese family.


METHODS
Twenty-two family members including 17 cataract patients in the Chinese family were analyzed clinically. All family members were genotyped with 382 microsatellite markers that provide genome-wide coverage every 10 cM. Linkage analysis was performed to identify the chromosomal location of the infantile cataract gene in the family. Candidate genes were studied by direct DNA sequence analysis.


RESULTS
Genome-wide linkage analysis provided evidence for a genetic locus for infantile cataract on chromosome 20p12.2-20p11.23. The maximum LOD score was 5.15 for marker D20S471 at a recombination fraction of 0. Fine mapping defined the cataract gene within a 7.4 Mb interval between markers D20S915 and D20S912. No mutation was detected in potential candidate genes, BFSP1 and CHMP4B.


CONCLUSIONS
Our results suggest that there is a new gene for infantile cataract on chromosome 20p12.2-p11.23. Our results suggest that new genes for infantile cataract could be found through further study of candidate genes at the 20q locus, which may provide insights into the pathogenic mechanisms of cataracts.
Zhang
Shirong
S
Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Wuhan, PR China.
Liu
Mugen
M
Dong
Jia Mei
JM
Yin
Ke
K
Wang
Pengyun
P
Bu
Juan
J
Li
Jing
J
Hao
Yan Sheng
YS
Hao
Ping
P
Wang
Qing Kenneth
QK
Wang
Lejin
L
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002648:Child; D002681:China; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D003318:Corneal Opacity; D005190:Family; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype