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.
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.
Authors: M Isabel Casanova; Rui Chen; Laura M Garzel; Katherine J Olstad; Soohyun Kim; Ronald Alan Harris; Yumei Li; Muthuswamy Raveendran; Qingnan Liang; Jun Wang; Glenn Yiu; John Timothy Stout; Jeffrey A Roberts; Jeffrey Rogers; Ala Moshiri; Sara M Thomasy Journal: J Med Primatol Date: 2021-12-12 Impact factor: 0.667