scholarly journals A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family

2010 ◽  
Vol 32 (1) ◽  
pp. E1939-E1947 ◽  
Author(s):  
Binbin Wang ◽  
Changhong Yu ◽  
Yi-Bo Xi ◽  
Hong-Chen Cai ◽  
Jing Wang ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Autosomal Dominant Congenital Cataract

scholarly journals Mutations in PIKFYVE cause autosomal dominant congenital cataract

2021 ◽  
Author(s):  
Shaoyi Mei ◽  
Yi Wu ◽  
Yan Wang ◽  
Yubo Cui ◽  
Miao Zhang ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Kinase Domain ◽  
Dominant Negative ◽  
Chinese Family ◽  
Bafilomycin A1 ◽  
Atpase Inhibitor ◽  
Causative Gene ◽  
Whole Exome ◽  
Autosomal Dominant Congenital Cataract

Congenital cataract, an ocular disease predominantly occurring within the first decade of life, is one of the leading causes of blindness in children. Through whole exome sequencing of a Chinese family with congenital cataract, we identified a disease-causing mutation (p.G1943E) in PIKFYVE, which affecting the PIP kinase domain of the PIKfyve protein. We demonstrated that heterozygous/homozygous disruption of PIKfyve kinase domain, instead of overexpression of PIKFYVEG1943E in zebrafish mimicked the cataract defect in human patients, suggesting that haploinsufficiency, rather than dominant-negative inhibition of PIKfyve activity caused the disease. Phenotypical analysis of pikfyve zebrafish mutants revealed that loss of Pikfyve caused aberrant vacuolation (accumulation of Rab7+Lc3+ amphisomes) in lens cells, which was significantly alleviated by treatment with the V-ATPase inhibitor bafilomycin A1 (Baf-A1). Collectively, we identified PIKFYVE as a novel causative gene for congenital cataract and demonstrated the potential application of Baf-A1 in treatment of congenital cataract.

scholarly journals A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family

2008 ◽  
Vol 29 (5) ◽  
pp. 769-769 ◽  
Author(s):  
Feng Gu ◽  
Weixiao Luo ◽  
Xin Li ◽  
Zhuoqun Wang ◽  
Shuang Lu ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Chinese Family ◽  
Autosomal Dominant Congenital Cataract

scholarly journals A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract

2007 ◽  
Vol 120 (9) ◽  
pp. 820-824 ◽  
Author(s):  
Jun WANG ◽  
Xu MA ◽  
Feng GU ◽  
Ning-pu LIU ◽  
Xiao-lin HAO ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Autosomal Dominant Congenital Cataract

scholarly journals A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Xin-Yi Xia ◽  
Na Li ◽  
Xiang Cao ◽  
Qiu-Yue Wu ◽  
Tian-Fu Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Chinese Family

scholarly journals Connexin46 Mutations in Autosomal Dominant Congenital Cataract

1999 ◽  
Vol 64 (5) ◽  
pp. 1357-1364 ◽  
Author(s):  
Donna Mackay ◽  
Alexander Ionides ◽  
Zoha Kibar ◽  
Guy Rouleau ◽  
Vanita Berry ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Autosomal Dominant Congenital Cataract
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