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Ophthalmic Genetics Volume 38, 2017 - Issue 5
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Letters to the Journal

Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia

Tamer H. A. AmmarMedical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
,
Somaia IsmailMedical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
,
Ossama Abd Al-Motaal MansourBiochemistry Department, Faculty of Pharmacy, Al-Azhar University, Cairo, Egypt
,
Mostafa M. El-ShafeyBiochemistry Department, Faculty of Pharmacy, Al-Azhar University, Cairo, Egypt
,
Ahmed S. DoghishBiochemistry Department, Faculty of Pharmacy, Al-Azhar University, Cairo, Egypt
,
Ahmad M. KamalOphthalmology Department, Cairo University, Cairo, Egypt
&
Ghada M. H. Abdel-SalamClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, EgyptCorrespondence[email protected] [email protected]
ORCID Iconhttp://orcid.org/0000-0003-2893-8802
ORCID Icon show all
Pages 498-500 | Published online: 25 Jan 2017

References

  • Shah SP, Taylor AE, Sowden JC, et al. Surveillance of Eye Anomalies (SEA-UK) Special Interest Group. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest Ophthalmol Vis Sci 2011;52(1):558–564. [PMID: 20574025].
  • Traboulsi EI, Lenz W, Gonzales-Ramos M, et al. The Lenz microphthalmia syndrome. Am J Ophthalmol 1988;105(1):40–45. [PMID: 3276203].
  • Reis LM, Khan A, Kariminejad A, et al. VSX2 mutations in autosomal recessive microphthalmia. Mol Vis 2011;17:2527–2532. [PMID: 21976963].
  • Suzuki J, Azuma N, Dateki S, et al. Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalitie. J Hum Genet 2014;59(6):353–356. [PMID: 24804704].
  • Bakrania P, Robinson DO, Bunyan DJ, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 2007;91:1471–1476. [PMID: 17522144].
  • Schneider A, Bardakjian T, Reis LM, et al. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet A 2009;149A(12):2706–2715. [PMID: 19921648].
  • Zhou J, Kherani F, Bardakjian TM, et al. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis 2008; 14:583–92. [PMID:18385794].
  • Bar-Yosef U, Abuelaish I, Harel T, et al. CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds. Hum Genet 2004;115(4):302–309. [PMID: 15257456].
  • Burkitt Wright EM, Perveen R, Bowers N, et al. VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype. Br J Ophthalmol 2010;94:386–8. [PMID: 20215382].
  • Jakobsson C, Youssef MA, Marzouk I, et al. Compound heterozygous VSX2 mutation causing bilateral anophthalmia in a consanguineous Egyptian family. J Clin Exp Ophthalmol 2015;6:3,1–6. [open access].

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