Silver–Russell syndrome

3515's picture

Possible Association Between Complex Congenital Heart Defects and 11p15 ‎Hypomethylation in Three Patients with Severe Silver–Russell Syndrome

Journal Title, Volume, Page: 
American Journal of Medical Genetics Part A Volume 161, Issue 3, pages 572–577
Year of Publication: 
2013
Authors: 
Mustafa Ghanim
Faculty of Medicine and Health Sciences-An-Najah National University, Nablus, Palestine
Current Affiliation: 
Faculty of Medicine & Health Sciences, Department of Biomedical Sciences, An-Najah National University, Nablus, Palestine
Sylvie Rossignol
Explorations fonctionnelles endocriniennes, Hôpital d'enfants Armand-Trousseau-Paris, APHP, UPMC, INSERM U-938, France
Bruno Delobe
Service de génétique, Groupe Hospitalier de l'Institut Catholique Lillois/Faculté Libre de Médecine, F-59000 Lille, France
Melita Irving
Department of Clinical Genetics, Guy's and St. Thomas' NHS Trust, London, UK
Owen Miller
Department of Paediatric and Fetal Cardiology, Evelina Children's Hospital, Guy's and St Thomas' NHS Trust, London, UK
Louise Devisme
Service d'Anatomie Pathologique, CHRU Lille, France
Jean-Louis Plennevaux
Service de Gynécologie-Obstétrique, CH Arras, France
Sophie Lucidarme-Rossi
Service de Néonatologie, CH Arras, France
Sylvie Manouvrier
Centre de Référence Anomalies du Développement et Syndromes Malformatifs Nord de France, CHRU Lille, France
Azzi Salah
Explorations fonctionnelles endocriniennes, Hôpital d'enfants Armand-Trousseau-Paris, APHP, UPMC, INSERM U-938, France
Olimpia Chivu
Explorations fonctionnelles endocriniennes, Hôpital d'enfants Armand-Trousseau-Paris, APHP, UPMC, INSERM U-938, France
Irène Netchine
Explorations fonctionnelles endocriniennes, Hôpital d'enfants Armand-Trousseau-Paris, APHP, UPMC, INSERM U-938, France
Catherine Vincent-Delorme
Centre de Référence Anomalies du Développement et Syndromes Malformatifs Nord de France, CHRU Lille, France
Preferred Abstract (Original): 

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.

Syndicate content