Aniridia

Definition:

Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of the PAX6, a master regulatory gene that induces eye formation in a broad range of animals. Recently, it has been reported that aniridia is also caused by heterozygous mutations in the ELP4 gene and TRIM44 gene.

References:

[1]. H Kokotas, et al. Clinical and molecular aspects of aniridia. Clin Genet. 2010 May;77(5):409-20. [Content Brief]

[2]. John A Crolla, et al. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet. 2002 Nov;71(5):1138-49. [Content Brief]

[3]. Shipra Bhatia, et al. Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am J Hum Genet. 2013 Dec 5;93(6):1126-34. [Content Brief]

[4]. Xibo Zhang, et al. Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. Hum Mutat. 2015 Dec;36(12):1164-7. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.