Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 ( H19 / IGF2 : TSS‐DMR ) in 11p15.5

Clinical Genetics, vol. 98, pp. 418–419

Abstract

The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1 region in 11p15.5 through two generations but different phenotypes (Beckwith-Wiedemann and Silver-Russell syndromes, normal phenotype) are reported. The inconsistent phenotypic patterns of carriers of the same variant strongly indicate the impact of cis- and/or trans-acting modifiers on the clinical outcome of IC1 duplication carriers.

Authors 7

1. Thomas Eggermann corresponding Aachen Medical Faculty Institute of Human Genetics

   RWTH Aachen University

   Affiliation as printed

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

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

2. Florian Kraft Aachen Medical Faculty Institute of Human Genetics

   RWTH Aachen University

   Affiliation as printed

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

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

3. Katja Kloth

   Universität Hamburg

   Affiliation as printed

   Institute of Human Genetics University of Hamburg Hamburg Germany

   Institute of Human Genetics, University of Hamburg, Hamburg, Germany

4. Eva Klopocki

   University of Würzburg

   Affiliation as printed

   Institute of Human Genetics University of Würzburg Würzburg Germany

5. Irina Hüning

   University of Lübeck

   Affiliation as printed

   Institute of Human Genetics University of Lübeck Lübeck Germany

6. Maja Hempel

   Universität Hamburg

   Affiliation as printed

   Institute of Human Genetics University of Hamburg Hamburg Germany

   Institute of Human Genetics, University of Hamburg, Hamburg, Germany

7. Erdmute Kunstmann

   University of Würzburg

   Affiliation as printed

   Institute of Human Genetics University of Würzburg Würzburg Germany