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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 ( H19 / IGF2 : TSS‐DMR ) in 11p15.5
Author(s) -
Eggermann Thomas,
Kraft Florian,
Kloth Katja,
Klopocki Eva,
Hüning Irina,
Hempel Maja,
Kunstmann Erdmute
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13820
Subject(s) - genomic imprinting , gene duplication , phenotype , allele , imprinting (psychology) , genetics , biology , inheritance (genetic algorithm) , beckwith–wiedemann syndrome , gene , gene expression , dna methylation
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.