Abstract： Objective: To study the clinical phenotype and molecular genetic characteristics of a family with Stickler syndrome, and to identify the pathogenic gene and its mutation. Methods: This was an experimental study. Clinical features and pedigree analysis were performed on 11 patients with Stickler syndrome over 4 generations. Peripheral venous blood samples were collected from the proband and other members of the family (patients and normal persons), and high-throughput second-generation sequencing technology was used to analyze the proband and normal subjects by whole exome sequencing (WES). For the mutation sites obtained by WES screening, Sanger sequencing was used to conduct expanded verification for other patients and normal people in family members. Results: The clinical characteristics of Stickler patients mainly include congenital high myopia, cataract, vitreous degeneration, retinal detachment, Marfan shape, flat middle face, low nasal bridge, short nose, hearing impairment and high range of motion. The heterozygous mutation of the COL2A1 (NM_033150) gene c.710delG: p.G237fs was found in 10 existing Stickler patients in this family, resulting in the deletion of the 710th base G of the open reading frame and the subsequent sequence shift, which led to the premature termination of the protein translation at the 237th amino acid residue and the loss of its normal function due to the changes in the overall structure of the protein. The mutation site was not found in family members without Stickler history. Conclusions: A Stickler syndrome family was identified and the heterozygous mutation of the COL2A1 (NM_033150) gene c.710delG: p.G237fs was identified in this family.
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