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| Analysis of pathogenic genes in two families with congenital cataract caused by protein truncation |
| 1. Rehabilitation Hospital, National Research Center for Rehabilitation Technical Aids, Beijing, 100176; 2. Beijing Chao-Yang Hospital, Capital Medical University; 3. National Research Institute for Family Planning |
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Abstract To identify virulence genovariation in two families with congenital cataract by exon sequencing. Methods: The detailed clinical ophthalmic examination and the general physical examination were performed in some members of 2 families with congenital cataract who were treated in Beijing Tongren Hospital, Capital Medical University from 2019 to 2020. The peripheral blood of the probands and their relatives was collected for extracting the genomic DNA. Whole exon sequencing was used to screen the suspected pathogenic genes, and Sanger sequencing was used to verify the candidate pathogenic mutation sites of all the family members. Results: Exon sequencing and bioinformatics analysis showed that there was nonsense mutation of c.656G>A in CRYBB1 gene in family 1, which caused the tryptophan mutation at position 219 of CRYBB1 to become the termination codon (p.W219X), and finally produced the truncated crystallin. In family 2, the nonsense mutation of c.337C>T in CRYGD gene caused the tryptophan mutation at position at the 113th position of CRYGD to become a termination codon (p.Q113X), and which finally produced the truncated crystallin. Conclusion: The nonsense mutation of c.656G>A in CRYBB1 gene is the genetic cause of congenital cataract in family 1. The nonsense mutation of c.337C>T in CRYGD gene is the genetic cause of congenital cataract in family 2.
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| [1] |
CAO Zongfu1,2, LIU Lijuan3, YU Yufei1,2, Zhu Yihua4, Tong Yi4, MA Xu1,2, Yang Juhua5. Identification of GJA8 mutation in a Chinese family with congenital cataract by direct sequencing on hotspot exons[J]. 中国计划生育学杂志, 2019, 27(4): 518-. |
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