TY - JOUR
T1 - Adult phenotype of Russell-Silver syndrome
T2 - A molecular support for Barker-Brenner's theory
AU - Takenouchi, Toshiki
AU - Awazu, Midori
AU - Eggermann, Thomas
AU - Kosaki, Kenjiro
N1 - Publisher Copyright:
© 2015 Japanese Teratology Society.
PY - 2015/8/1
Y1 - 2015/8/1
N2 - Developmental Origins of Health and Disease theory stems from large-scale epidemiologic observation. The presumed mechanism for this hypothesis includes epigenetic changes; however, it remains to be elucidated if individuals with intrauterine growth retardation and epigenetic changes confirmed at the molecular level are indeed susceptible to adult-onset disease. Here we document three individuals with Russell-Silver syndrome, a prototypic condition caused by hypomethylation of the differently methylated imprinting center region 1 (ICR1) between the IGF2 and H19 loci on chromosome 11p15. At follow-up, the three patients developed adult-onset diseases such as obesity, hypertension, and diabetes mellitus in their early 20s. The presence of molecularly confirmed epigenetic changes in these patients provides a biological basis for Barker-Brenner's theory at an individual level.
AB - Developmental Origins of Health and Disease theory stems from large-scale epidemiologic observation. The presumed mechanism for this hypothesis includes epigenetic changes; however, it remains to be elucidated if individuals with intrauterine growth retardation and epigenetic changes confirmed at the molecular level are indeed susceptible to adult-onset disease. Here we document three individuals with Russell-Silver syndrome, a prototypic condition caused by hypomethylation of the differently methylated imprinting center region 1 (ICR1) between the IGF2 and H19 loci on chromosome 11p15. At follow-up, the three patients developed adult-onset diseases such as obesity, hypertension, and diabetes mellitus in their early 20s. The presence of molecularly confirmed epigenetic changes in these patients provides a biological basis for Barker-Brenner's theory at an individual level.
KW - Adult-onset diseases
KW - Developmental origins of health and disease
KW - Epigenetics
KW - Insulin-like growth factor 2
KW - Russell-silver syndrome
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U2 - 10.1111/cga.12105
DO - 10.1111/cga.12105
M3 - Article
C2 - 25639378
AN - SCOPUS:84937832076
SN - 0914-3505
VL - 55
SP - 167
EP - 169
JO - Congenital anomalies
JF - Congenital anomalies
IS - 3
ER -
