Abstract: Objective: To identify the gene mutations in a sporadic case of classic Ehlers-Danlos syndrome (cEDS) and summarize the genetic characteristics of cEDS reported in China. Methods: Whole exome sequencing was performed on the proband, and sanger sequencing was conducted to indetify the mutation in both the proband and his parents. Besides, all the literatures reported in China since 1982 were summarized. Results: The proband had a novel heterozygous deletion mutation of the COL5A1 gene on exon 6: c.922delG (p.E308Rfs*3), while no variation was found in his parents. A total of 12 cases of cEDS mutations were researched, of which, 11 cases with COL5A1 gene mutation and 1 case with COL5A2 gene mutation. Conclusion: Our data add new variant to the repertoire of COL5A1 gene in cEDS.

Key words: classic Ehlers-Danlos syndrome, COL5A1 gene, mutation