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| Identification of GJA8 mutation in a Chinese family with congenital cataract by direct sequencing on hotspot exons |
| 1.National Research Institute for Family Planning, Beijing, 100081；2.National Centre for Human Genetic；3.Fujian Medical University,；4.Fuzhou Southeast Eye Hospital；5.Biomedical Engineering Center, Fujian Medical University |
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Abstract To investigate the disease-causing mutation in a Chinese family with congenital cataract. Methods: Direct sequencing on hotspot exons was applied to examine the DNA sample of the proband from a Chinese family with congenital cataract. Disease-causing mutation was identified by bioinformatics analysis and followed by ACMG classification. Results: A compound heterozygous mutation, c.569A>G (p.N190S) locus on GJA8 of the proband were found, which conformed to the law of genetic cosegregation in the family. Conclusion: c.569A>G (p.N190S) locus on in GJA8 maybe cause congenital cataract of patients in a Chinese family, and it is the first reported.
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