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.