Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family

Background. Congenital cataract is the cloudiness of the eye's natural lens and is a primary cause of congenital vision loss. It accounts for almost 10% of childhood vision loss worldwide. Methods. A four generation Chinese family having seven affected individuals was recruited for the current study. Exome sequencing was performed to identify the genetic cause of congenital cataract. Results. Analysis of data identified a novel frameshift mutation, c.608delC (p.A203fs), in the PITX3 gene. This mutation was only observed in the affected individuals while the unaffected members of the family as well as 100 ethnically matched normal controls did not contain this deletion. Conclusion. These findings suggest that p.A203fs is the cause of cataracts in the recruited family. This information would be further helpful in the genetic diagnosis of cataract and in the genetic counseling of similar patients.