期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 135A, 期 1, 页码 1-7出版社
WILEY
DOI: 10.1002/ajmg.a.30642
关键词
SOX2; anophthalmia; microphthalmia; brain malformation; microgenitalia; developmental delay; seizures
资金
- MRC [MC_U127527199] Funding Source: UKRI
- Medical Research Council [MC_U127527199] Funding Source: researchfish
- Medical Research Council [MC_U127527199] Funding Source: Medline
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据