Human genomics · 2025
Expanding the genetic spectra of gyrate atrophy of the choroid and retina in a Chinese cohort in Yunnan province.
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Gao Feng-Juan, Duan Cong, Chen Kai-Xin, Ju Yu-Qiao, Chang Qing, Li Juan-Juan, Zhang Li-Wei, Hu Zhu-Lin, Xu Ge-Zhi, Zong Yuan
Аннотация
BACKGROUND: Gyrate atrophy (GACR), a rare autosomal recessive chorioretinal dystrophy caused by OAT mutations, is genetically and clinically underexplored in multi-ethnic Chinese populations.
RESULTS: Eight patients from five families all exhibited high myopia (mean - 8.28 D), early-onset vision loss, and elevated plasma ornithine. Parapapillary atrophy (PPA) was common (76.92%) and correlated with worse BCVA and longer AL. Four novel OAT mutations were identified: c.213G > A (p.Trp71Ter), c.799 A > C (p.Thr267Pro), c.897 C > A (p.Tyr299Ter) and c.-30 + 22_-30 + 43del. Minigene assays confirmed aberrant splicing for the latter.
CONCLUSIONS: This study identifies the first pathogenic 5' UTR variant in GACR, reveals ethnic-specific mutation profiles, and underscores PPA as a severity-linked feature.
RESULTS: Eight patients from five families all exhibited high myopia (mean - 8.28 D), early-onset vision loss, and elevated plasma ornithine. Parapapillary atrophy (PPA) was common (76.92%) and correlated with worse BCVA and longer AL. Four novel OAT mutations were identified: c.213G > A (p.Trp71Ter), c.799 A > C (p.Thr267Pro), c.897 C > A (p.Tyr299Ter) and c.-30 + 22_-30 + 43del. Minigene assays confirmed aberrant splicing for the latter.
CONCLUSIONS: This study identifies the first pathogenic 5' UTR variant in GACR, reveals ethnic-specific mutation profiles, and underscores PPA as a severity-linked feature.