%0 Journal Article
%T Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia.
%A Yuan D
%A Yan T
%A Luo S
%A Huang J
%A Tan J
%A Zhang J
%A Zhang VW
%A Lan Y
%A Hu T
%A Guo J
%A Huang M
%A Zeng D
%A Yuan D
%A Yan T
%A Luo S
%A Huang J
%A Tan J
%A Zhang J
%A Zhang VW
%A Lan Y
%A Hu T
%A Guo J
%A Huang M
%A Zeng D
%J Front Genet
%V 12
%N 0
%D 2021
%M 34966409
%F 4.772
%R 10.3389/fgene.2021.765503
%X 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.