BACKGROUND Congenital cataract has been reported in a colony of captive-bred vervet monkeys (Chlorocebus aethiops). METHODS Molecular tools such as genotyping and gene expression were used to identify mutations associated with congenital cataract in this vervet colony. Beaded filament structural protein 1 (BFSP1), beta-crystallin B1 (CRYBB1), galactokinase1 (GALK1), and gap junction alpha-8 protein (GJA8) were screened, sequenced, and analyzed for mutations in 24 vervet monkeys (control and cataract). RESULTS Five missense sequence variants were identified (V147E, A167P, L212F, N55K, and T247A), three of which were found to be potentially disease-causing. Furthermore, downregulation was observed in BFSP1, CRYBB1, and GALK1 genes. CONCLUSION This study reports two cases of incomplete penetrance and/or uniparental disomy (L212F and T247A) in BSFP1. Mutations in BSFP1 together with three mutations in GALK1 and GJA8 were predicted to be disease-causing.

中文翻译：

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圈养黑长尾猴（Chlorocebus aethiops）中BFSP1，CRYBB1，GALK1和GJA8的突变分析。

背景技术已经报道了在圈养的黑长尾猴（Chlorocebus aethiops）的群落中先天性白内障。方法使用分子工具，如基因分型和基因表达，鉴定与该黑猩猩先天性白内障相关的突变。筛选，测序并分析了24只黑长尾猴中的串珠丝状结构蛋白1（BFSP1），β-晶体蛋白B1（CRYBB1），半乳糖激酶1（GALK1）和缝隙连接α-8蛋白（GJA8）的突变（对照和白内障） 。结果鉴定出五个错义序列变体（V147E，A167P，L212F，N55K和T247A），其中三个被发现可能引起疾病。此外，在BFSP1，CRYBB1和GALK1基因中观察到下调。结论本研究报告了2例BSFP1中不完全外显和/或单亲二体性（L212F和T247A）。预计BSFP1中的突变以及GALK1和GJA8中的三个突变都是致病的。