Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene.

@article{Murphy2008SevereIG,
  title={Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene.},
  author={Ross R T Murphy and J. E. de Freitas Baptista and J H P Holly and A. Margot Umpleby and Sian Ellard and Lorna W Harries and J Crolla and T. F. Cundy and Andrew T Hattersley},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2008},
  volume={93 11},
  pages={4373-80}
}
CONTEXT IGF-II is an imprinted gene (predominantly transcribed from the paternally inherited allele), which has an important role in fetal growth in mice. IGF2 gene expression is regulated by a complex system of enhancers and promoters that determine tissue-specific and development-specific transcription. In mice, enhancers of the IGF2 gene are located up to 260 kb telomeric to the gene. The role of IGF-II in humans is unclear. OBJECTIVE A woman of short adult stature (1.46 m, -3 sd score… CONTINUE READING