Article
Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
Clinical genetics - 1 Nov 2013
Schilter K F, Reis L M, Schneider A, Bardakjian T M, Abdul-Rahman O, Kozel B A, Zimmerman H H, Broeckel U, Semina E V
Abstract excerpt
Anophthalmia/microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole-genome copy number variation analysis in 60 patients affected with isolated or syndromic A/M. Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia. Other variants of interest...
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