移码突变
错义突变
突变
无义突变
眼球震颤
视力
遗传学
医学
基因
生物
分子生物学
眼科
放射科
作者
Jinling Xu,Yamin Chen,Hao Chen,Jiahua Wang,Tong Yan,Xudong Yu,Ye Liang,Meiping Xu,Suzhong Xu,Huanyun Yu,Ruzhi Deng,Yihan Zheng,Yeqin Yang,Qiang Chen,Xinping Yu,Yong Liu,Yuanbo Liang,Feng Gu
标识
DOI:10.1016/j.exer.2023.109567
摘要
The visual function of patients with infantile nystagmus (IN) can be significantly decreased owing to constant eye movement. While, reaching a definitive diagnosis becomes a challenge due to genetic heterozygous of this disease. To address it, we investigated whether best-corrected visual acuity (BCVA) results can facilitate the molecular diagnosis of IN patients harboring FRMD7 mutations. 200 patients with IN from 55 families and 133 sporadic cases were enrolled. Mutations were comprehensively screened by direct sequencing using gene-specific primers for FRMD7. We also retrieved related literature to verify the results based on our data. We found that the BCVA of patients with IN harboring FRMD7 mutations was between 0.5 and 0.7, which was confirmed by data retrieved from the literature. Our results showed that BCVA results facilitate the molecular diagnosis of patients with IN harboring FRMD7 mutations. In addition, we identified 31 FRMD7 mutations from the patients, including six novel mutations, namely, frameshift mutation c.1492_1493insT (p.Y498LfsTer14), splice-site mutation c.353C > G, three missense mutations [c.208C > G (p.P70A), c.234G > A (p.M78I), and c.1109G > A (p.H370R)], and nonsense mutation c.1195G > T (p.E399Ter). This study demonstrates that BCVA results may facilitate the molecular diagnosis of IN patients harboring FRMD7 mutations.
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