The genetics of aniridia — simple things become complicated

• Published in: Journal of applied genetics Vol. 59; no. 2; pp. 151 - 159
• Main Authors: Wawrocka, Anna, Krawczynski, Maciej R.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-05-2018; Springer; Springer Nature B.V
• Subjects: Abnormalities; Animal Genetics and Genomics; Aniridia; Aniridia - genetics; Biomedical and Life Sciences; Children; Chromosome rearrangements; Diagnostic systems; Eye diseases; Genes; Genetic aspects; Genetic Testing; Genetics; Haploinsufficiency; Human Genetics; Human Genetics • Review; Humans; Hypoplasia; Life Sciences; Microbial Genetics and Genomics; Mutation; Neurodevelopmental disorders; Pathogenesis; Patients; Pax6 protein; PAX6 Transcription Factor - genetics; Plant Genetics and Genomics; High-resolution array-CGH; MLPA; 11p13 microdeletions; Aniridia; PAX6
• ISSN: 1234-1983; 2190-3883
• DOI: 10.1007/s13353-017-0426-1

Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with additional ocular abnormalities. It is inherited in an autosomal dominant manner, with high penetrance and variable expression even within the same family. In most cases the disease is caused by haploinsufficiency truncating mutations in the
PAX6
gene; however, in up to 30% of aniridia patients, disease results from chromosomal rearrangements at the 11p13 region. The aim of this review is to present the clinical and genetic aspects of the disease. Furthermore, we present a molecular diagnostic strategy in the aniridia patients. Recent improvement in the genetic diagnostic approach will precisely diagnosis aniridia patients, which is essential especially for children with aniridia in order to determine the risk of developing a Wilms tumor or neurodevelopmental disorder. Finally, based on the previous studies we describe the current knowledge and latest research findings in the topic of pathogenesis of aniridia and possible future treatment.