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Zia Chaudhuri, Jibin John, Satinder Aneja, BK Thelma; Identification of a novel putative variant in the EPHA2 gene on Chromosome 1p in a family with exotropia by whole exome sequencing. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3439.
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© ARVO (1962-2015); The Authors (2016-present)
Familial inheritance of primary concomitant horizontal strabismus (PCS) has been noted but its genetic components remain unidentified. The most significant finding so far has been localization of the STBMS1 locus on chromosome 7. Recently, next generation sequencing (NGS) technology has emerged as a powerful tool in discovery genomics. In this study, we aimed to identify novel gene(s) for PCS using informative families and whole exome sequencing (WES) approach
A three generation family with likely autosomal dominant large angle exotropia was prospectively recruited following phenotypic assessment and pedigree analysis. DNA isolated from peripheral venous blood was used for WES (Agilent V5 + UTR on an Illumina platform).
WES identified a heterozygous missense mutation in the EPHA2 gene on chromosome 1p which segregated in all five affected members but not in the three unaffected members. The variant was confirmed by PCR Sanger-sequencing.
EPHA2 gene belongs to the ephrin receptor subfamily of the protein tyrosine kinase family and has been implicated in the regulation of many aspects of mammalian development in multiple organs. It has attracted special attention in the field of lens development, especially cataractogenesis. EPHA2 gene appears to be functionally relevant for PCS warranting investigations in additional familial and sporadic cohorts. WES on informative families with clear modes of inheritace may provide a valuable resource for uncovering potential novel causal variants for PCS.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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