Mutations in VSX2, SOX2, and FOXE3 identified in patients with micro-/anophthalmia

Article Article scientifique Article Mutations in VSX2, SOX2, and FOXE3 identified in patients with micro-/anophthalmia eng 2019 author Habibi Imen author Youssef Mohamed author Marzouk Eman author El Shakankiri Nihal author Gawdat Ghada author El Sada Mohamed author F. Schorderet Daniel author Abou Zeid Hana 95843 221-226 10.1007/978-3-030-27378-1_36 31884615 0065-2598 http://link.springer.com/10.1007/978-3-030-27378-1_36 Anophthalmia 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. Anophthalmia Microphthalmia VSX2 SOX2 FOXE3 true 582 Ophtalmologie expérimentale 925 Advances in Experimental Medicine and Biology 1185 969e2915-3ec6-459e-ba3c-5601517382be Article (Published version) Restricted habibi_Abouzeid_al_2019-1.pdf 374494 application/pdf restrictedAccess

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Mutations in VSX2, SOX2, and FOXE3 identified in patients with micro-/anophthalmia	Advances in Experimental Medicine and Biology			2019	295	0

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Abou Zeid, Hana