A Novel Pax6 Nonsense Mutation Identified in an Iranian Family With Various Eye Anomalies

A Novel Pax6 Nonsense Mutation Identified in an Iranian Family With Various Eye Anomalies Publisher

Torkashvand A¹ ; Mohebbi M¹ ; Hashemi H^{2, 3}

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1. Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran
2. Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran
3. Noor Research Center for Ophthalmic Epidemiology, Noor Eye Hospital, Tehran, Iran

Source: Journal of Current Ophthalmology Published:2018

Abstract

Purpose: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus. Methods: The entire coding region of paired box gene 6 (PAX6) was amplified by polymerase chain reaction (PCR), sequenced, and compared with a GenBank database. Results: A novel mutation (c.1170 C > T; p.Gln297X) was found in the proband and all affected members. This nonsense mutation leads to PAX6 protein truncation. Conclusions: Our findings suggest that this novel mutation is most likely responsible for the pathogenesis of the congenital aniridia, cataract, and nystagmus in this pedigree. To the best of our knowledge, this is the first report of this mutation of PAX6 gene in a kindred pedigree with various ocular abnormalities. © 2017 Iranian Society of Ophthalmology

Style	Citing Format
MLA	Torkashvand A, Mohebbi M, Hashemi H. "A Novel Pax6 Nonsense Mutation Identified in an Iranian Family With Various Eye Anomalies." Journal of Current Ophthalmology, vol. 30, no. 3, 2018, pp. 234-238.
APA	Torkashvand A, Mohebbi M, Hashemi H (2018). A Novel Pax6 Nonsense Mutation Identified in an Iranian Family With Various Eye Anomalies. Journal of Current Ophthalmology, 30(3), 234-238.
Chicago	Torkashvand A, Mohebbi M, Hashemi H. "A Novel Pax6 Nonsense Mutation Identified in an Iranian Family With Various Eye Anomalies." Journal of Current Ophthalmology 30, no. 3 (2018): 234-238.
Harvard	Torkashvand A, Mohebbi M, Hashemi H (2018) 'A Novel Pax6 Nonsense Mutation Identified in an Iranian Family With Various Eye Anomalies', Journal of Current Ophthalmology, 30(3), pp. 234-238.
Vancouver	Torkashvand A, Mohebbi M, Hashemi H. A Novel Pax6 Nonsense Mutation Identified in an Iranian Family With Various Eye Anomalies. Journal of Current Ophthalmology. 2018;30(3):234-238.
BibTex	@article{ author = {Torkashvand A and Mohebbi M and Hashemi H}, title = {A Novel Pax6 Nonsense Mutation Identified in an Iranian Family With Various Eye Anomalies}, journal = {Journal of Current Ophthalmology}, volume = {30}, number = {3}, pages = {234-238}, year = {2018} }
RIS	TY - JOUR AU - Torkashvand A AU - Mohebbi M AU - Hashemi H TI - A Novel Pax6 Nonsense Mutation Identified in an Iranian Family With Various Eye Anomalies JO - Journal of Current Ophthalmology VL - 30 IS - 3 SP - 234 EP - 238 PY - 2018 ER -

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