Next‐generation sequencing‐aided precise diagnosis of Stickler syndrome type I

Abstract Purpose To explore an early, rapid and precise diagnosis of Stickler syndrome type I ( STL 1) and to enrich the spectrum of COL 2A1 mutations in the Chinese population, which is poorly studied at present. Methods In the current study, we analysed 115 patients with high myopia by next‐generation sequencing and identified five STL 1 patients from four unrelated Chinese families. The clinical features of all patients were reviewed in detail. Results Four variants of COL 2A1 were identified, including two novel variants (c.1435delG and c.184delG) and two previously reported variants (c.1221+1G>A and c.1030C>T). Three variants caused premature termination codons which were common in STL 1. In addition, we proposed a new diagnostic tactic to improve early diagnostics of STL 1 in patients. Conclusion In this study, our findings expanded the spectrum of COL 2A1 mutations with two novel variants and provided a new diagnostic tactic for reference, which was of great significance. Precise diagnosis on the basis of clinical manifestations and genetic testing will become the gold standard to diagnose inherited ocular disorders or syndromes in the future.