Congenital aniridia

A rare PAX6 mutation in a Chinese family with congenital aniridia

F. He, Liu, D. L., Chen, M. P., Liu, L., Lu, L., Ouyang, M., Yang, J., Gan, R., and Liu, X. Y., A rare PAX6 mutation in a Chinese family with congenital aniridia, vol. 14, pp. 13328-13336, 2015.

Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects.

A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus

X. Cao, Zhou, X. M., Gan, R., Jiang, L. Q., Lu, L., Wang, Y., Fan, N., Yin, Y., Yan, N. H., Yu, W. H., and Liu, X. Y., A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus, vol. 13, pp. 8679-8685, 2014.

Genetic variations within the paired box gene 6 (PAX6) gene are associated with congenital aniridia. To detect the genetic defects in a Chinese twin family with congenital aniridia and nystagmus, exons of PAX6 were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Six members from the family of three generations were included in the study. The twins’ father presented with congenital aniridia, nystagmus and cataract at birth, while the twins presented with congenital aniridia and nystagmus.

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