Conclusions
In conclusion, a novel ARR4 nonsense mutation, c.569C>G (p.S190*), was identified in a Southern Chinese family, with the X-linked female-limited ARR4 hereditary pattern not observed in this study. Combined with previous studies, the high myopia caused by the pathogenic mutation of ARR4 cannot be easily considered as X-linked dominant or X-linked female-limited disease. While it was also found that abnormal ARR4 mediated ER stress and was degraded by the proteasome pathway, our results ultimately expand the ARR4 variant spectrum and provides additional evidence for reliable genetic counseling and prenatal diagnosis of HM.