WANG Min,WANG Juan,XU Ding,et al.Genetic diagnosis of CRB1 mutations in retinal degenerative diseases by target exon sequencing[J].同济大学学报（医学版）,2015,36(6):13-18. [点击复制]
Genetic diagnosis of CRB1 mutations in retinal degenerative diseases by target exon sequencing
WANG Min,WANG Juan,XU Ding,LV Li-xia,WANG Fang,XU Guo-tong
(Laboratory of Clinical Vision Science, Tongji Eye Institute, Tongji University, Shanghai 200092, China;Dept.of Ophthalmology, Tenth People's Hospital, Tongji University, Shanghai 200072, China;Laboratory of Clinical Vision Science, Tongji Eye Institute, Tongji University, Shanghai 200092, China;Teaching and Research Section of Biochemistry andMolecular Biology, Regenerative Medicine, Medical College, Tongji University, Shanghai 200092, China;Laboratory of Clinical Vision Science, Tongji Eye Institute, Tongji University, Shanghai 200092, China;Dept.of Ophthalmology, Tenth People's Hospital, Tongji University, Shanghai 200072, China;Teaching and Research Section of Biochemistry andMolecular Biology, Regenerative Medicine, Medical College, Tongji University, Shanghai 200092, China)
Abstract:
Objective To investigate genetic diagnosis of CRB1 mutations in retinal degeneration by target exon sequencing. Methods A 3-year child with suspected Leber's congenital amaurosis(LCA) and 3 family members were included in the study. Peripheral vein blood was collected and genome DNA was extracted; the target exon capture and next generation sequencing(Candidate Exon Sequencing) was performed. Sanger sequencing validation and family cosegregation study were used to identify the causative mutation based on bioinformatic analysis. ResultsCompound heterozygote mutations of CRB1 gene, c.3521G>C and c.1141_1142 insTGGCT, were identified in the proband. The gene mutations(c.3521G>C, p.C1174S) and(c.1141_1142insTGGCT) were detected from the father and mother of the proband, respectively; while only one mutation(c.1141_1142 insTGGCT) was detected in proband's younger brother. Conclusion Target exon sequencing can be used to screen known causative gene for retinal degenerative diseases.
