Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.
Human growth is a complex process that requires the appropriate interaction of many players. Central members in the growth pathways are regulated epigenetically and thereby reflect the profound significance of imprinting for correct mammalian ontogenesis. In this review, we show that the growth retardation disorder Silver-Russell syndrome (SRS) is a suitable model to decipher the role of imprinting in growth. As we will show, SRS should not only be regarded as the genetically (and clinically) opposite disease to Beckwith-Wiedemann syndrome, but it also represents the first human disorder with imprinting disturbances that affect two different chromosomes (i.e. chromosomes 7 and 11). Thus, a functional interaction between factors encoded by chromosomes 7 and 11 is likely.
Eggermann
Thomas
T
Institute of Human Genetics, RWTH Aachen, Aachen, Germany. teggermann@ukaachen.de
Eggermann
Katja
K
Schönherr
Nadine
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D019175:DNA Methylation; D018392:Genomic Imprinting; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D013577:Syndrome