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Acta Medica Iranica، جلد ۵۶، شماره ۲، صفحات ۸۴-۸۹
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Identification of a Non-Stop Mutation in PAX6 Causing a Unique Presentation of Aniridia in an Iranian Family Trial
چکیده انگلیسی مقاله Non-syndromic aniridia (iris hypoplasia) as an autosomal dominant eye disorder results from the chromosomal abnormalities and mutations within the paired box gene 6 ( PAX6 ). The aim of this study was to investigate on the clinical and the underlying genetic alteration in PAX6 gene in a large pedigree with five generations of Iranian family with an autosomal dominant aniridia. Here, we reported unique clinical features in terms of presenting nystagmus, ptosis, minimal iris abnormality, foveal hypoplasia and late-onset clinical limbal stem cell deficiency. Genomic DNA was extracted from the affected members and polymerase chain reaction (PCR) was conducted using specific primers to amplify coding sequence of PAX6 . Then, PCR products were subjected to bidirectional dye terminator sequencing. A heterozygous transversion mutation A→T (c.1268A>T, p.*423Lext*15) in exon 13 of PAX6 was identified in all affected individuals, but not in the healthy members. This is the first report of non-stop mutation in PAX6 gene in an Iranian family accompanied with an isolated form of unusual congenital aniridia running within this family.
کلیدواژه‌های انگلیسی مقاله Eye disorder,PAX6,Non-stop mutation
نویسندگان مقاله مهران زارعی قنواتی | mehran zarei ghanavati
farabi eye research center, farabi eye hospital, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

رضا غفاری | reza ghaffari
farabi eye research center, farabi eye hospital, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

هدی عابد خجسته | hoda abedkhojasteh
department of general surgery, sina hospital, mashhad, iran.


کسری ریوفیان | kasra raoufian
legal medicine research center, legal medicine organization, tehran, iran.


رضا روفیان | reza raoofian
farabi eye research center, farabi eye hospital, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

معصومه محبی | masoumehe mohebbi
department of molecular biology and genetics, islamic azad university, bushehr branch, bushehr, iran. and experimental medicine research center, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

منصور حیدری | mansour heidari


نشانی اینترنتی http://acta.tums.ac.ir/index.php/acta/article/view/6500
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/56/article-56-571552.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Articles
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