{Reference Type}: Journal Article
{Title}: Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia.
{Author}: Yuan D;Yan T;Luo S;Huang J;Tan J;Zhang J;Zhang VW;Lan Y;Hu T;Guo J;Huang M;Zeng D;Yuan D;Yan T;Luo S;Huang J;Tan J;Zhang J;Zhang VW;Lan Y;Hu T;Guo J;Huang M;Zeng D;
{Journal}: Front Genet
{Volume}: 12
{Issue}: 0
{Year}: 2021
{Factor}: 4.772
{DOI}: 10.3389/fgene.2021.765503
{Abstract}: ARR3 has been associated with X-linked, female-limited, high myopia. However, using exome sequencing (ES), we identified the first high myopia case with hemizygous ARR3-related mutation in a male patient in a Southern Chinese family. This novel truncated mutation (ARR3: c.569C>G, p.S190*) co-segregated with the disease phenotype in affected family members and demonstrated that high myopia caused by ARR3 is not X-linked, female-limited, where a complicated X-linked inheritance pattern may exist. Thus, our case expanded the variant spectrum in ARR3 and provided additional information for genetic counseling, prenatal testing, and diagnosis. Moreover, we characterized the nonsense-mediated decay of the ARR3 mutant mRNA and discussed the possible underlying pathogenic mechanisms.