Journal
GENETICS IN MEDICINE
Volume 14, Issue 11, Pages 900-904Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2012.71
Keywords
autozygosity mapping; colobomatous microphthalmia; TEN-M3; Teneurin-3
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Funding
- KACST [08-MED497-20]
- Dubai-Harvard Foundation for Medical Research Collaborative Grant
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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.
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