Abstract
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.
Highlights
Anophthalmia (A) is a rare and severe ocular malformation characterized by the absence of one or both eye at birth with absent vision [1]
A compound heterozygous Visual system homeobox 2 (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
Summary
Anophthalmia (A) is a rare and severe ocular malformation characterized by the absence of one or both eye at birth with absent vision [1]. Non-syndromic A/M is often associated with other ocular anomalies such as colobomas, cysts, cataracts, microcornea or sclerocornea. The underlying genetic cause is identifiable in approximately 25 to 30% of A/M patients as chromosomal aberrations or monogenic mutations and in up to 80% of severe anophthalmia with colobomas as monogenic mutations [2,3]. Several genes of A/M are related with autosomal-dominant inheritance and include GDF6, BMP4 OTX2, and SOX2 [4]. Mutations in SOX2, OTX2 and ALDH1A3 are the most common known genetic cause of A/M and account for respectively 4-20%, 3-8% and 10% of cases [2,8]. The remaining genes are very rare and the rate of A/M mutations is made difficult to assess
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