Cataract is a common cause of blindness in children. The pathogenesis of cataract remains unclear. One to six of 10,000 newborns in developed countries and 5-15/10,000 newborns in developing countries are afflicted with congenital cataract. Congenital cataracts may occur in isolation or with other ocular abnormalities and may have associated syndromes. The clinical manifestations of congenital cataract inherited via the sex chromosomes are complex and varied, including abnormal lens function, as well as multiple system abnormalities. Genetic factors play an important role in the pathogenesis of congenital cataract. NHS, OCRL1, EBP, BCOR and COL4A5 genes are thought to be affected with cataract.
BCOR is located at Xp11.4. It comprises 14 exons, and formats the POZ/zinc pointing transcription repressor in the germinal center. BCOR is expressed in many tissues, including the eyes, teeth and the nerve canal, and plays an important role in the regulation of early embryo development. This gene is responsible for X-linked oculo-facio-cardio-dental (OFCD) syndrome and cataract. PAX6 is located on chromosome 11p13. It is a "master control gene" crucial for normal oculogenesis. Mutations in the gene are associated with a broad range of non-aniridia phenotypes, including myopia, microcornea, coloboma and Peter's anomaly, as well as neurodevelopmental defects. Mutations in PAX6 are wildly reported in cataract patients. It may play an important role in cataract. Other genes such like NHS, NF2, PITX2 et al are also identified in cataract families.
In order to well know the consequences of these mutations of BCOR or other associated genes, our platform provides targeted DNA sequencing by the Illumina MiSeq. We also offer a comprehensive cataract panel library for your genetic testing choices on cataract.
For more information about the Custom Cataract Panel or need other amplification requirements, please contact us.