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.
Highlights
Myopia occurs when the axial length of the eyes is too long, typically causing distant objects to be focused in the front of the retina (Young, 2009)
We reported an X-linked high myopia case and identified the associated genetic variant in a Southern Chinese family
Our observation of High myopia (HM) symptoms in a male member was inconsistent with the established femalelimited inheritance pattern
Summary
Myopia occurs when the axial length of the eyes is too long, typically causing distant objects to be focused in the front of the retina (Young, 2009). HM is defined by diopters (D) greater than â6.0 or an axial length greater than 26 mm (Young et al, 2007). Both environmental and genetic factors can influence the severity of myopia (Saw et al, 1996; Morgan et al, 2012), with some family studies showing that genetic factors play a crucial role in the development of HM (Young et al, 2007; Cai et al, 2019). Even though several male family members were hemizygous, they did not possess the phenotypic features of HM, thereby proving to be the second disease, after those associated with PCDH19, with this unusual inheritance pattern (Depienne et al, 2009)
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