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OBJECTIVE OF THE STUDY To identify the pathogenic gene and mutation site of a Chinese family with congenital cataract. METHODS Eight family members and 100 controls were employed, and targeted exome sequencing was used to identify the genetically pathogenic factor of the proband. RESULTS Targeted next-generation sequencing identified a novel missense mutation c.209AC (p.Q70P) of CRYBB1 gene in the family. Sanger sequencing results showed that this heterozygous mutation was a causative mutation, which was not found in unaffected family
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