Molecular testing for imprinting disorders

Medizinische Genetik, vol. 32, pp. 305–319

Abstract

Abstract Imprinting disorders are a group of rare diseases with a broad phenotypic spectrum caused by a wide variety of genetic and epigenetic disturbances of imprinted genes or gene clusters. The molecular genetic causes and their respective frequencies vary between the different imprinting disorders so that each has its unique requirements for the diagnostic workflow, making it challenging. To add even more complexity to this field, new molecular genetic causes have been identified over time and new technologies have enhanced the detectability e. g. of mosaic disturbances. The precise identification of the underlying molecular genetic cause is of utmost importance in regard to recurrence risk in the families, tumour risk, clinical management and conventional and in the future therapeutic managements. Here we give an overview of the imprinting disorders, their specific requirements for the diagnostic workup and the most common techniques used and point out possible pitfalls.

Authors 4

1. Jasmin Beygo corresponding

   Essen University Hospital · University of Duisburg-Essen

   Affiliation as printed

   Institute of Human Genetics, University Hospital Essen , University of Duisburg-Essen , Essen , Germany

2. Deniz Kanber

   Essen University Hospital · University of Duisburg-Essen

   Affiliation as printed

   Institute of Human Genetics, University Hospital Essen , University of Duisburg-Essen , Essen , Germany

3. Thomas Eggermann Aachen Medical Faculty Institute of Human Genetics

   RWTH Aachen University

   Affiliation as printed

   Institute of Human Genetics, Medical Faculty , RWTH Aachen University , Aachen , Germany

4. Matthias Begemann Aachen Medical Faculty Institute of Human Genetics

   RWTH Aachen University

   Affiliation as printed

   Institute of Human Genetics, Medical Faculty , RWTH Aachen University , Aachen , Germany