MOLECULAR GENETICS OF THE OCULO-AURICULO-VERTEBRAL (OAV) SPECTRUM

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The oculo-auriculo-vertebral (OAV) spectrum disorder consists of a distinct pattern of birth defects involving eyes, ears, and spine. Currently, most cases of OAV are thought to be non-genetic (possibly of vascular or teratogenic origin), and a recurrence risk of 2-3% is generally quoted. However, there are families of multiple affected individuals with an autosomal dominant mode of inheritance. Over the last two years, Dr. Beck has collected clinical information on 15 such families, predominantly from the Stanford Medical Genetics service. Although we have studied clinical characteristics of these patients and proposed a hypothesis regarding features which might separate non-genetic from familial (likely genetic) cases, the most definitive test would be to discover a genetic change associated with the condition in a specific family. Currently, no genes for OAV are known, and we propose to search for the inherited cause(s) of the OAV spectrum disorder. With IRB approval already obtained, we will collect blood samples from available families for DNA isolation and lymphoblast transformation. We will perform whole genome linkage studies to identify regions containing candidate genes. In the future, we hope to isolate genes responsible for OAV from regions that show significant linkage