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Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome
Author(s) -
Ghanim Mustafa,
Rossignol Sylvie,
Delobel Bruno,
Irving Melita,
Miller Owen,
Devisme Louise,
Plennevaux JeanLouis,
LucidarmeRossi Sophie,
Manouvrier Sylvie,
Salah Azzi,
Chivu Olimpia,
Netchine Irène,
VincentDelorme Catherine
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35691
Subject(s) - cor triatriatum , pediatrics , medicine , chromosome , cardiology , genetics , biology , gene , left atrium , atrial fibrillation
Silver–Russell 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 50–60% and in 5–10% 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. © 2013 Wiley Periodicals, Inc.