Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family
|Cecilia Jakobsson1,2#, Mohamed A Youssef3#, Iman Marzouk3, Nihal ElShakankiri4, Nader Bayoumi4, Francis L. Munier1,2, Daniel F Schorderet1,2,5 and Hana Abouzeid1,2*|
|1IRO-Institute for Research in Ophthalmology, Sion, Switzerland|
|2Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, Department of ophthalmology, University of Lausanne, Lausanne, Switzerland|
|3Genetics Unit, Department of Pediatrics, University of Alexandria, Alexandria, Egypt|
|4Department of Ophthalmology, University of Alexandria, Alexandria, Egypt; 5Faculty of Life Sciences, EPFL-Ecole polytechnique fédérale de Lausanne, Lausanne, Switzerland|
|#These authors contributed equally to this paper|
|Corresponding Author :||Hana Abouzeid
IRO - Institute for Research in Ophthalmology
Av du Grand-Champsec 64, 1950 Sion
Tel: +4127 205 79 00
Fax: +4127 205 79 01
E-mail: [email protected]
|Received: May 04, 2015; Accepted: June 25, 2015; Published: June 29, 2015|
|Citation: Jakobsson C, Youssef MA, Marzouk I, ElShakankiri N, Bayoumi N (2015) Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family. J Clin Exp Ophthalmol 6:441. doi:10.4172/2155-9570.1000441|
|Copyright: © 2014 Jakobsson C et al., This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.|
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Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia.
Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes with recessive inheritance was done stepwise and DNA was analyzed by Sanger sequencing.
Results: Bilateral anophthalmia, arachnodactyly of the feet and high arched palate were observed on general examination. The parents were first cousins and healthy. Sequencing analysis revealed a novel compound heterozygous mutation in one of the copy of exon 2 of VSX2 and a possible deletion of at least exon 2 on the other allele.
Conclusions: A compound heterozygous VSX2 mutation associated with anophthalmia was identified in a patient from an Egyptian consanguineous family. This report brings the number of VSX2 mutation in anophthalmia/ microphthalmia (A/M) to 13. Functional consequences of the reported changes still need to be characterized, as well as the percentage of A/M caused by mutations in the VSX2 gene. This family also shows that despite consanguinity, heterozygous mutations can also happen and one should not restrict the molecular analysis to homozygous mutations.