Epigenetics in Silver-Russell syndrome.
Silver-Russell syndrome (SRS) is a clinically heterogeneous syndrome characterized by intra-uterine and postnatal growth retardation with spared cranial growth, dysmorphic features and frequent body asymmetry. Various cytogenetic abnormalities have been described in a small number of SRS or SRS-like cases involving chromosomes 7, 8, 11, 15, 17 and 18. However, until recent data became available involving imprinted genes on chromosome 7 and chromosome 11p15, the molecular cause of the syndrome was unknown in most cases. Genomic imprinting is the best example of transcriptional control of genes by epigenetic modifications. Many imprinted genes play key roles in fetal and placental growth and behaviour. This is illustrated in SRS, which can now be considered as a new imprinting disease model. These new findings in the pathophysiology of SRS allow long-term follow-up studies to be performed based on molecular diagnosis. This could help to define appropriate clinical guidelines regarding growth and feeding difficulties.
Explorations fonctionnelles endocriniennes, Hôpital Trousseau (APHP); INSERM U515; Université Pierre et Marie Curie-Paris6, 26 avenue du Dr Netter, 75012 Paris, France. sylvie.rossignol@trs.aphp.fr
Sylvie
S
Rossignol
Irène
I
Netchine
Yves
Y
Le Bouc
Christine
C
Gicquel
D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D044127:Epigenesis, Genetic; D005317:Fetal Growth Retardation / Q000235:genetics*; D018392:Genomic Imprinting; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D013577:Syndrome; D024182:Uniparental Disomy / Q000235:genetics