Abstract:

Objective A difficult hurdle in whole exome sequencing application is rapid data interpretation. In this study, whole-exome sequencing and WuXi NextCODE software were used to rapidly identify pathogenic mutations in 5 undiagnosed cases. Methods The exome targets of the patient′s DNA were captured with the SureSelct Human All Exon kit followed by sequencing with the Illumina HiSeq2000 platform. The WuXi NextCODE software was used for the data analysis. The detected variant was confirmed with Sanger direct sequencing. Results 5 trio families with undiagnosed probands were recruited. A heterozygous missense mutation was identified in FGFR2 gene in proband 1, compound heterozygous missense mutations in GBE1 gene in proband 2, and a heterozygous missense mutation in TBX1 gene in proband 3 by whole-exome sequencing of trio samples. A homozygous missense mutation was identified in IL10RA gene in proband 4, and compound heterozygous missense mutations in IL10RA gene in proband 5 by whole-exome sequencing of proband only. Conclusion This study clearly showed the efficacy of whole-exome sequencing and was helpful to rapid genetic diagnosis for undiagnosed cases.