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 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 COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Bing-Bing Guo ◽  
Jie-Yuan Jin ◽  
Zhuang-Zhuang Yuan ◽  
Lei Zeng ◽  
Rong Xiang
Keyword(s):  
Extracellular Matrix ◽  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Chinese Family ◽  
The Novel ◽  
Structure Model ◽  
Whole Exome ◽  
Nucleotide Mutation

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early-onset osteoarthritis. COMP encodes the cartilage oligomeric matrix protein, which is expressed predominantly in the extracellular matrix (ECM) surrounding the cells that make up cartilage, ligaments, and tendons. Mutations in COMP are known to give rise to PSACH. In this study, we identified a novel nucleotide mutation (NM_000095.2: c.1317C>G, p.D439E) in COMP responsible for PSACH in a Chinese family by employing whole-exome sequencing (WES) and built the structure model of the mutant protein to clarify its pathogenicity. The novel mutation cosegregated with the affected individuals. Our study expands the spectrum of COMP mutations and further provides additional genetic testing information for other PSACH patients.

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
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