Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

Conclusions:
We identified a missense P24T mutation in CRYGD that was responsible for coralliform cataract in our studied family. Our findings suggest that the combination of exome sequencing and linkage analysis is a powerful tool for identifying Mendelian disease mutations that might be missed by the classic linkage analysis strategy. (Source: BMC Medical Genetics – Latest articles)