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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
Clinical Genetics ( IF 3.5 ) Pub Date : 2020-08-09 , DOI: 10.1111/cge.13820
Thomas Eggermann 1 , Florian Kraft 1 , Katja Kloth 2 , Eva Klopocki 3 , Irina Hüning 4 , Maja Hempel 2 , Erdmute Kunstmann 3
Affiliation  

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.
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中文翻译:

11p15.5印迹中心1(H19 / IGF2:TSS‐DMR)中父本等位基因重复的家庭中的异型表型

重复影响11p15.5区域的临床影响是难以预测的,并且取决于受影响等位基因的起源母体以及变体的类型(缺失,重复),程度和基因组含量。报告了三个不相关的家族,这些家族通过两个世代的重复遗传影响了11p15.5中的IC1区,但表型不同(Beckwith-Wiedemann和Silver-Russell综合征,正常表型)。相同变体携带者的表型不一致,强烈表明顺式和/或反式修饰剂对IC1复制携带者临床结局的影响。
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更新日期:2020-09-23
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