Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome
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DOI：
10.1002/ajmg.a.35691
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发表时间：
2013-03-01
影响因子：
2
通讯作者：
Vincent-Delorme, Catherine
中科院分区：
文献类型：
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作者：
Ghanim, Mustafa;Rossignol, Sylvie;Vincent-Delorme, Catherine
SilverRussell综合征（SRS）的特点是产前和产后生长受限，不包括头部生长、喂养困难和面部畸形，但没有重大畸形。父本11p15印记控制区1 （ICR1）的低甲基化和母亲7号染色体的单亲二体分别在5060%和510%的SRS患者中被发现。我们报告了三名不相关的SRS患者不寻常的先天性心脏缺陷（CHDs）的产前和产后特征。两名早产患者肺静脉回流完全异常，出生后不久死亡，第三名患者，现在4岁，有心房三角，手术纠正。在所有3例患者中，潜在的分子缺陷是11p15 ICR1低甲基化。基于分子证实的SRS的大型队列，SRS中冠心病的患病率估计为5.5%。我们认为11p15 ICR1低甲基化的SRS发生冠心病不是巧合，而是特定于该基因型。(c) 2013 Wiley Periodicals, Inc.；
SilverRussell syndrome (SRS) is characterized by pre- and post-natal growth restriction that spares head growth, feeding difficulties, and variable dysmorphic facial features without major malformations. Hypomethylation of the paternal 11p15 imprinting control region 1 (ICR1) and maternal uniparental disomy of chromosome 7 are found in 5060% and in 510% of SRS patients, respectively. We report on the pre- and post-natal features of three unrelated SRS patients with unusual congenital heart defects (CHDs). Two patients born prematurely had total anomalous pulmonary venous return and died shortly after birth, and a third patient, now 4 years old, had cor triatriatum sinistrum, which was surgically corrected. In all three patients, the underlying molecular defect was 11p15 ICR1 hypomethylation. Based on a large cohort with molecularly proven SRS, the prevalence of CHD in SRS is estimated at 5.5%. We suggest that the occurrence of CHD in SRS with 11p15 ICR1 hypomethylation is not coincidental, but specific to this genotype. (c) 2013 Wiley Periodicals, Inc.