A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.

doi:10.1016/j.jocn.2009.03.022

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Article

A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Dec 2009

Bayrakli Fatih, Guney Ilter, Bayri Yasar, Ercan-Sencicek Adife Gulhan, Ceyhan Dogan, Cankaya Tufan, Mason Christopher, Bilguvar Kaya, Bayrakli Sengul, Mane Shrikant M, State Matthew W, Gunel Murat

Abstract excerpt

Paired box gene 6 (PAX6) is the causative gene of aniridia. It is a dominantly inherited eye abnormality characterized by partial or complete absence of the iris. The PAX6 gene is located on chromosome 11p13 and contains 14 exons. It is expressed mainly in the developing eye and central nervous system. Submicroscopic copy number variations are common in the human genome. Submicroscopic deletions may cause several...

Topics

3' Untranslated Regions
Aniridia
Chromosome Aberrations
Chromosomes, Human, Pair 11
Cytogenetics
Eye Proteins
Family Health
Female
Gene Expression Profiling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Homeodomain Proteins

Humans

Magnetic Resonance Imaging

Male

Oligonucleotide Array Sequence Analysis

PAX6 Transcription Factor

Paired Box Transcription Factors

Repressor Proteins

Source

Open in PubMed

Identifiers

PMID: 19793656
DOI: 10.1016/j.jocn.2009.03.022

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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