期刊
GENETICS IN MEDICINE
卷 14, 期 11, 页码 900-904出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2012.71
关键词
autozygosity mapping; colobomatous microphthalmia; TEN-M3; Teneurin-3
资金
- KACST [08-MED497-20]
- Dubai-Harvard Foundation for Medical Research Collaborative Grant
Purpose: Microphthalmia is a condition in which eyes are small in size, often associated with coloboma, as a result of aberrant eye development. Isolated microphthalmia is a model disease for studying early development of the human eye, and mutations in several key genes related to eye development have been linked to this phenotype. Methods: In our search for novel genes that cause autosomal recessive microphthalmia when mutated, we enrolled a family that consists of third-cousin parents and two children with isolated colobomatous microphthalmia. Results: Exome and autozygome analysis identified a null mutation in ODZ3, one of four vertebrate orthologs of odz in Drosophila. Conclusion: Our data highlight a role for ODZ3 in the early development of the human eye.
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