Skip Navigation Links
 تاریخ های مهم 
 Pre Registered 
 برنامه همایش 
 Personal page 
                             دومین ويژه نامه همايش بهاره چشم پزشكي منتشر شد        شب بهاری چشم پزشکی با رحیم شهریاری       دومین همایش بهاره چشم پزشکی
Skip Navigation Links
        مکان برگزاری
        تاریخ های مهم
        ثبت نام
        ثبت نام شدگان
        برنامه همایش
        صفحه شخصی
        جستجوی سخنران
مقاله Abstract

Title: PAX6 gene screening in a large Iranian pedigree with aniridia
Author(s): Mehraban Mirrahimi, Fatemeh Suri, Hamideh Sabbaghi, Hamid Ahmadieh, Mehdi Jahanmard
Presentation Type: Poster
Subject: Biochemistry/ Molecular Biology/Retinal Cell Biology
Presenting Author:
Name: Mehraban Mirrahimi
Affiliation :(optional) Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
E mail:
Phone: 02144400270
Mobile: 09125854680

Aniridia is a rare developmental eye disorder characterized by complete or partial iris hypoplasia. Aniridia is associated with multiple other ocular changes that affect the cornea, anterior chamber, iris, lens, retina, macula and optic nerve. Most cases are associated with dominantly inherited mutations or deletions of the PAX6 gene. PAX6 that encodes a paired box transcriptional factor is considered as the master regulator in the eye development. To reveal the underlying genetic defect in a four-generation Iranian family with aniridia, we carried out a genetic screening of PAX6.


Complete ophthalmic examinations were performed in available affected family members. Genomic DNA was extracted from peripheral blood leukocytes using the standard salting out method and all PAX6 exons and their flanking regions were amplified by PCR. Candidate variation was screened for segregation in the pedigree by Sanger sequencing. The in silico bioinformatics tools were used to predict and score the deleterious effects of the identified nucleotide change on the protein product.


All patients were diagnosed with isolated aniridia without any systemic involvement. p.Leu107HisfsX16 mutation on PAX6 gene was detected. The frameshift mutation leads to early termination of the amino acid coding, which is expected to affect the protein’s function.


To the best of our knowledge, it is the first report on genetics of aniridia in Iran. Segregation analysis and bioinformatics predictions all support the proposition that the observed PAX6 mutation is cause of aniridia in the pedigree.

Attachment: 82aniridia poster.pptx

Last News

  - دومین ويژه نامه همايش بهاره چشم پزشكي منتشر شد
  -  شب بهاری چشم پزشکی با رحیم شهریاری
  - دومین همایش بهاره چشم پزشکی