A novel p.Glu75Lys mutation in CRYBB1 with low penetrance in an Indian family with nuclear form of congenital cataract

In this case a novel heterozygous p.Glu75Lys mutation in CRYBB1 was detected in an Indian family with nuclear cataract. The mutation was inherited in autosomal dominant pattern and showed reduced penetrance. Identification and characterization of this mutation further confirm the importance of protein interactions in maintaining lens transparency, and provides insight into the molecular mechanism underlying the pathogenesis of human congenital cataract.