Ragge, N. K. and Lorenz, Birgit and Schneider, A. and Bushby, K. and de Sanctis, L. and de Sanctis, U. and Salt, A. and Collin, J. R. O. and Vivian, A. J. and Free, S. L. and Thompson, P. and Williamson, K. A. and Sisodiya, S. M. and van Heyningen, V. and FitzPatrick, D. R. (2005) SOX2 anophthalmia syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 135A (1). pp. 1-7. ISSN 1552-4825, 1552-4833
Full text not available from this repository. (Request a copy)Abstract
Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). The SOX2-associated ocular malformations are variable in type, but most often bilateral and severe. Of the nine patients, six had bilateral anophthalmia and two had anophthalmia with contralateral microphthalmia with sclerocornea. The remaining case had anophthalmia with contralateral microphthalmia, posterior cortical cataract and a dysplastic optic disc, and was the only patient to have measurable visual acuity. The relatively consistent extraocular phenotype observed includes: learning disability, seizures, brain malformation, specific motor abnormalities, male genital tract malformations, mild facial dysmorphism, and postnatal growth failure. Identifying SOX2 mutations from large cohorts of patients with structural eye defects has delineated a new, clinically-recognizable, multisystem disorder and has provided important insight into the developmental pathways critical for morphogenesis of the eve, brain, and male genital tract. (c) 2005 Wiley-Liss, Inc.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HOMEOBOX GENE; MICROPHTHALMIA; MUTATIONS; MALFORMATIONS; EXPRESSION; ANOMALIES; COLOBOMA; FAMILY; EYE; SOX2; anophthalmia; microphthalmia; brain malformation; microgenitalia; developmental delay; seizures |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 11 May 2021 13:18 |
| Last Modified: | 11 May 2021 13:18 |
| URI: | https://pred.uni-regensburg.de/id/eprint/36126 |
Actions (login required)
 |
View Item |
