Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory

Toshiki Takenouchi, Midori Awazu, Thomas Eggermann, Kenjiro Kosaki

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)167-169
Number of pages3
JournalCongenital anomalies
Volume55
Issue number3
DOIs
Publication statusPublished - 2015 Aug 1

Keywords

  • Adult-onset diseases
  • Developmental origins of health and disease
  • Epigenetics
  • Insulin-like growth factor 2
  • Russell-silver syndrome

ASJC Scopus subject areas

  • Medicine(all)

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