Habibi, ImenYoussef, MohamedMarzouk, EmanEl Shakankiri, NihalGawdat, GhadaEl Sada, MohamedSchorderet, Daniel F.Abou Zeid, Hana2020-03-052020-03-052020-03-052019-01-0110.1007/978-3-030-27378-1_36https://infoscience.epfl.ch/handle/20.500.14299/166998WOS:000514087200037Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three probands from an Egyptian population with various forms of A/M: two patients with bilateral anophthalmia and one with bilateral microphthalmia that were investigated using whole exome sequencing (WES). We identified three causative mutations in three different genes. A new homozygous frameshift mutation c.[422delA];[422delA], p.[N141Ifs*19]; [N141Ifs*19] in VSX2 was identified in a patient showing bilateral anophthalmia. A previously reported SOX2 deletion c.[70_89del20] p.[N24Rfs*65];[=] was found in one subject with bilateral anophthalmia. A novel homozygous in-frame mutation c.[431_433delACT];[ 431_433delACT], p.[Y144del]; [Y144del]) in FOXE3 was identified in a patient with severe bilateral microphthalmia and anterior segment dysgenesis. This study shows that whole exome sequencing (WES) is a reliable and effective strategy for the molecular diagnosis of A/M. Our results expand its allelic heterogeneity and highlight the need for the testing of patient with this developmental anomaly.Medicine, Research & ExperimentalOphthalmologyResearch & Experimental Medicineanophthalmiamicrophthalmiavsx2sox2foxe3non-syndromic microphthalmia/anophthalmiagenetext::conference output::conference proceedings::conference paper