2023, Vol. 27 ›› Issue (2): 192-199

Etiological analysis of discoid meniscus based on whole exome sequencing

Zhang Jian, Lin Jianping, Zhou Gang, Wang Benchao, Wu Yongchang   

Abstract: BACKGROUND: Discoid meniscus is a morphological change of the meniscus and its pathogenesis is unknown. There is yet no genomics research on discoid meniscus.
OBJECTIVE: To screen the suspected pathogenic genes of discoid meniscus using whole exome sequencing combined with bioinformatics analysis methods.
METHODS: The peripheral blood DNA of seven patients with discoid meniscus was extracted, and the whole exome sequencing was performed after the DNA database was established. The sequencing data were compared with the public genome database to screen the mutation sites, and the suspicious pathogenic mutations were annotated and interpreted.
RESULTS AND CONCLUSION: A total of 6 943 mutation sites were identified in 7 patients, including 3 620 missense mutations, 732 synonymous mutations, 488 mutations near the splice site, 45 splice site mutations, 20 exon duplications, 84 exon deletions, 136 non-frameshift mutations, 54 truncation mutations, 5 extension mutations, and 8 start site mutations. Based on shared mutation genes and public genomic databases, 6 suspected pathogenic genes, PADI4, FLNB, SYNE1, COL11A2, COL2A1, and MYO9A, were identified, including 15 mutation sites. Combined with mutation frequency database, protein hazard analysis results and related studies have determined that the suspected genes of this disease are PADI4, FLNB, SYNE1, COL11A2, and COL2A1.
Key words: discoid meniscus, whole exome sequencing, etiology, pathogenesis, genomics