A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family

Author:

Xia Xin-Yi,Wu Qiu-Yue,An Li-Mei,Li Wei-Wei,Li Na,Li Tian-Fu,Zhang Cui,Cui Ying-Xia,Li Xiao-Jun,Xue Chun-Yan

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology,General Medicine

Reference26 articles.

1. Lu S, Zhao C, Jiao H, Kere J, Tang X, Zhao F, Zhang X, Zhao K, Larsson C: Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. Mol Vis. 2007, 13 (10): 1154-1160.

2. Wang J, Ma X, Gu F, Liu NP, Hao XL, Wang KJ, Wang NL, Zhu SQ: A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract. Chin Med J (Engl). 2007, 120 (9): 820-824.

3. Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK: Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. Invest Ophthalmol Vis Sci. 2006, 47 (8): 3461-3466. 10.1167/iovs.05-1438.

4. Gu F, Li R, Ma XX, Shi LS, Huang SZ, Ma X: A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family. Mol Vis. 2006, 12 (1): 26-31.

5. Guleria K, Sperling K, Singh D, Varon R, Singh JR, Vanita V: A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. Mol Vis. 2007, 13 (6): 1657-1665.

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