Uniparental disomy and genomic imprinting in dermatology

With the increased understanding and application of molecular genetics, exceptions to Mendelian genetics have been characterized. Uniparental disomy and genomic imprinting are two genetic mechanisms that often underlie these unusual patterns of inheritance. Uniparental disomy occurs when both copies of one chromosome pair come from only one parent. Genomic imprinting is the differential expression of allelic genes depending upon the parent of origin. In this review, these topics will be examined with regard to their etiologies and clinical consequences. We will focus on examples from the dermatological literature, including Prader–Willi, Angelman, Silver–Russell, Chediak–Higashi, cartilage-hair hypoplasia, Bloom and Beckwith–Wiedemann syndromes, as well as epidermolysis bullosa and cystic fibrosis. © 2006, Future Drugs Ltd. All rights reserved.

Duke Scholars

Author Daniela Kroshinsky Dermatology