Whole-exome sequencing of a Chinese Northeast Han family with high myopia and night blindness reveals a novel NYX mutation
This study employed whole-exome sequencing to investigate the genetic basis of high myopia and congenital stationary night blindness (CSNB) in a four-generation Chinese Han family from Northeast China. We identified a novel frameshift mutation (c.264dup, p.Arg89Alafs*26) in the NYX gene located on chromosome Xp11.4. This mutation co-segregated with the disease phenotype in an X-linked recessive manner and was absent in public variant databases. Functional predictions via AlphaFold2 and molecular dynamics simulations indicated that the mutation leads to a truncated protein, disrupting its interaction with mGluR6 and impair retinal signal transduction. Our findings expand the mutational spectrum of NYX and provide insights into the pathogenesis of syndromic high myopia associated with CSNB.