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. Chromosome 22q11 deletion (del22q11.2) is a genetic syndrome occurring in 1/4000 live births. The syndrome is characterized by a variety of physical differences and patients may have one or more of the following features: characteristic facial features, cardiac defects, abnormalities in the thymus gland, hypoparathyroidism, learning difficulties, and psychiatric disorders. Most patients with 22q11 deletion syndrome have a deletion of a segment on one of the copies of chromosome 22. Although there is widespread interest in understanding the genotype-phenotype relationship in this complex genetic syndrome, few studies have been designed to provide information on the specific genetic variations or to objectively delineate the craniofacial phenotype in these patients. Yet understanding the genetic contribution to this phenotype will require additional insight into the genetic differences and a quantitative description of the craniofacial features in children with the 22q11 deletion. The purpose of the current pilot study is two-fold. The primary aim is to discover genetic variants in patients with the 22q11 deletion.
The second aim i s to continue to gather data to address the question: can craniofacial anthropometric measurements provide an objective and specific description of craniofacial differences that are clinically observed in patients with chromosome 22q11 deletion? This aspect of the project adds to a study we have already begun to validate the 3DMD camera for facial measurements in children with del22q11.2. We subsequently refer to the first camera validation study as 'Phase I' and to the current study as 'Phase II' of our pilot investigations. The results of this pilot project will provide preliminary data that is critical to the planning of future studies. In the next phase of this research (phase 3), for which a separate IRB application will follow, we will perform an adequately powered (with 200 participants) case-control association study designed to assess the phenotype-genotype relationship of the craniofacial features and genetic differences in individuals with del22q11.2. Further understanding of this relationship would provide insight into the developmental biology underlying this complex genetic syndrome as well as typical craniofacial development.
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