CLINICAL PHENOTYPE OF IMPRINTED GENES ON CHROMOSOME 14

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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. Both maternal and paternal uniparental disomy (UPD) for chromosome 14 have specific phenotypes, indicating that there are imprinted genes on chromosome 14.Through careful and systematic characterization of the clinical features associated with both maternal and paternal UPD 14, we will prove that maternal and paternal UPD 14 are distinct entities and gain a better understanding of the actions of imprinted genes on chromosome 14. The study of human disorders, such as Angelman, Prader-Willi, Beckwith-Wiedemann and Russell-Silver syndromes, has led both to the identification of imprinted genes and to an understanding of the effects of those imprinted genes. To date, there has been no systematic characterization of the phenotypic features of maternal and paternal UPD 14, and as yet, only one imprinted gene has been identified on chromosome 14. We will test the hypothesis that careful and systematic characterization of the features of UPD 14 will demonstrate that maternal and paternal UPD 14 are distinct and different disorders. We will also gain a better understanding of the effects of the imprinted genes on chromosome 14.