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. 2018 Mar 7;30(3):234-238.
doi: 10.1016/j.joco.2017.12.006. eCollection 2018 Sep.

A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies

Ali Torkashvand  1 , Masoomeh Mohebbi  1 , Hassan Hashemi  2   3
Affiliations

A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies

Ali Torkashvand et al. J Curr Ophthalmol. .

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.

Keywords: Cataract; Congenital aniridia; Nystagmus; PAX6 nonsense mutation; Polymerase chain reaction.

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Figures

Fig. 1
Fig. 1
Pedigree chart and molecular study of an Iranian family with various eye anomalies. (A) The pedigree of the family represents an autosomal dominant pattern of inheritance with three affected patients (arrow points to the proband). (B) Direct sequencing revealed a base substitution (c.1170 C > T; p.Gln297X) in exone 9 of PAX6 gene that results in a frameshift mutation and protein truncation (arrow points to the position of the base substitution). (C) Chromatogram of the wild type of exon 9 of PAX6 gene.
Fig. 2
Fig. 2
Ophthalmological examinations of the proband (III-7) revealed variable expression of ocular conditions. (A) Incomplete iris and lens coloboma (white arrow). (B) Fibrovascular pannus extending from the limbus (black arrow) of the right eye. (C) Partial iris hypoplasia and crypt-less feature. (D) Superficial fibrovascular pannus extension over the cornea.
Fig. 3
Fig. 3
Ophthalmological features of other affected family members. (A, B) Bilateral fibrovascular pannus, uveal ectropion (black arrow), and iris stromal atrophy adjacent to pupillary border (white arrow) in II-3. (C) Sclerocornea and total corneal opacity of the left eye. (D) Prominent subconjunctival fibrosis and extensive corneal fibrovascular opacity of the right eye in II-1.
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