Skip to main content

Advertisement

Log in

Clinical Examples of Disturbed IGF Signaling: Intrauterine and Postnatal Growth Retardation due to Mutations of the Insulin-Like Growth Factor I Receptor (IGF-IR) Gene

  • Published:
Reviews in Endocrine and Metabolic Disorders Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Rosenfeld RG. Insulin-like growth factors and the basis of growth. New Engl J Med 2003;349:2184–2186.

    Article  PubMed  Google Scholar 

  2. LeRoith D, Werner H, Breitner-Johnson D, Roberts CT Jr. Molecular and cellular aspects of the IGF-I receptor. Endocrine Rev 1995;16:143–163.

    Article  Google Scholar 

  3. Ullrich A, Gray A, Tam AW, Yang-Feng T, et al. Insulin-like growth factor I receptor primary structure: Comparison with insulin receptor suggests structural determinants that define functional specificity. EMBO J 1986;5:2503–2512.

    PubMed  Google Scholar 

  4. Butler AA, LeRoith D. Minireview: tissue-specific versus generalized gene targeting of the igf1 and igf1r genes and their roles in insulin-like growth factor physiology. Endocrinology 2001;142:1685–1688.

    Article  PubMed  Google Scholar 

  5. Bierich JR, Moeller H, Ranke MB, Rosenfeld RG. Pseudopituitary dwarfism due to resistance to somatomedin: a new syndrome. Eur J Pediatr 1986;142:186–188.

    Article  Google Scholar 

  6. Holzenberger M, Leneuve P, Hamard G, et al. A targeted partial invalidation of the insulin-like growth factor I receptor gene in mice causes a postnatal growth deficit. Endocrinology 2000;141:2557–2566.

    Article  PubMed  Google Scholar 

  7. Holzenberger M, Hamard G, Zaoui R, Leneuve P, Ducos B, Beccavin C, Perin L, Le Bouc Y. Experimental IGF-I receptor deficiency generates a sexually dimorphic pattern of organ-specific growth deficits in mice, affecting fat tissue in particular. Endocrinology 2001;142:4469–4478.

    Article  PubMed  Google Scholar 

  8. Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor (IGF-I) and type 1 IGF receptor (IGF-1R). Cell 1993;87:59–72.

    Article  Google Scholar 

  9. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfäffle R, Raile K, Seidel B, Smith RJ, Chernausek SD. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. New Engl J Med 2003;349:2211–2222.

    Article  PubMed  Google Scholar 

  10. Giustina A, Veldhuis JD. Pathophysiology of the neuroregulation of growth hormone secretion in experimental animals and the human. Endocr Rev 1998;19:717–797.

    Article  PubMed  Google Scholar 

  11. Powell-Braxton L, Hollingshead P, Warburton C, Dowd M, Pitts-Meek S, Dalton D, Gillett N, Stewart TA. IGF-I is required for normal embryonic growth in mice. Genes & Development 1993;7:2609–2617.

    Google Scholar 

  12. Woods KA, Camacho-Hubner C, Savage MO, Clark AJL. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 1996;335:1363–1367.

    Article  PubMed  Google Scholar 

  13. Goddard AD, Covello R, Luoh S-M, et al. Mutations of the growth hormone receptor in children with idiopathic short stature. N Engl J Med 1995;333:1093–1098.

    Article  PubMed  Google Scholar 

  14. DeChiara TM, Efstratiadis A, Robertson EJ. A growth-deficiency phenotype in heterozygous mice carrying an IGF-II gene disrupted by targeting. Nature 1990;345:78–80.

    Article  PubMed  Google Scholar 

  15. Siebler T, Lopaczynski W, Terry CL, et al. Insulin-like growth factor receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15. J Clin Endocrinol Metab 1995;80:3447–3457.

    Article  PubMed  Google Scholar 

  16. Roback EW, Barakt AJ, Dev VG, Mbikay M, Chretien M, Butler MG. An infant with deletion of the distal long arm of chromosome 15 (q26.1–qter) and loss of IGF-I receptor gene. Amer J Med Gen 1991;38:74–79.

    Article  Google Scholar 

  17. Momoi T, Yamanaka C, Kobayashi M, et al. Short stature with normal growth hormone and elevated IGF-I. Eur J Pediatr 1992;151:321–325.

    PubMed  Google Scholar 

  18. Ducos B, Cabrol S, Houang M, Perin L, Holzenberger M, Le Bouc Y. IGF type 1 receptor ligand binding characteristics are altered in a subgroup of children with intrauterine growth retardation. J Clin Endocrinol Metab 2001;86:5516–5524.

    Article  PubMed  Google Scholar 

  19. Schmidt A, Chakravarty A, Brommer E, Fenne BD, Siebler T, De Meyts P, Kiess W. Growth failure in a child showing characteristics of Seckel syndrome: Possible effects of IGF-I and endogenous IGFBP-3. Clin Endocrinol 2002;57:293–299.

    Article  Google Scholar 

  20. Nagai T, Shimokawa O, Harada N, Sakazume S, Ohashi H, Matsumoto N, Obata K, Yoshino A, Murakami N, Murai T, Sakuta R, Niikawa N. Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): Dosage effect of IGF-IR? Amer J Med Gen 2002;113:173–177.

    Article  Google Scholar 

  21. Okubo Y, Siddle K, Firth H, O’Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB. Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 IGF receptor gene and a tall child with three copies of the IGF-I receptor gene. J Clin Endocrinol Metab 2003;88:5981–5988.

    Article  PubMed  Google Scholar 

  22. Heath-Monning E, Wohltmann HJ, Mills-Dunlap B, Daughaday WH. Measurement of insulin-like growth factor I responsiveness of fibroblasts of children with short stature: Identification of a patient with IGF-I resistance. J Clin Endocrinol Metab 1987;64:501–507.

    PubMed  Google Scholar 

  23. Rasmussen SK, Lautier C, Hansen L, et al. Studies of the variability of the genes encoding the insulin-like growth factor receptor and its ligand in relation to type 2 diabetes mellitus. J Clin Endocrinol Metab 2000;85:1606–1610.

    Article  PubMed  Google Scholar 

  24. Fukushima K, Komatsu H, Matsumoto M, Kobayashi H, Tsukimori K, Satoh S, Nakano H. IGF-related proteins at birth in a case of antenatally diagnosed Silver-Russell syndrome. Pediatr Res 2002;51:323–327.

    PubMed  Google Scholar 

  25. Tollefsen SE, Heath-Monning E, Cascieri MA, Bayne ML, Daughaday W. Endogenous insulin-like growth factor binding proteins cause IGF-I resistance in cultured fibroblasts from a patient with short stature. J Clin Invest 1991;87:1241–1250.

    PubMed  Google Scholar 

  26. de Lacerda L, Carvalho JA, Stannard B, Werner H, Boguszewski MC, Sandrini R, Malozowski SN, LeRoith D, Underwood LE. In vitro and in vivo responses to short-term recombinant human IGF-I in a severly growth-retared girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene. Clin Endocrinol 1999;51:541–550.

    Article  Google Scholar 

  27. Kiess W, Gausche R, Keller A, Burmeister J, Willgerodt H, Keller E. Computer-guided, population based screening system for growth disorders and on-line generation of normative data for growth and development. Horm Res 2001;56:(Suppl.1):59–66.

    Article  PubMed  Google Scholar 

  28. Kratzsch J, Blum WF, Schenker E, Keller E. Regulation of growth hormone (GH), insulin-like growth factor (IGF)I, IGF binding proteins -1,-2,-3 and GH binding protein during progression of liver cirrhosis. Exp Clin Endocrinol Diabetes 1995;103:285–291.

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to W. Kiess.

Additional information

Supported by grants from the German Endocrine Society (to A.S.), and IZKF, Leipzig, Germany (projects B11, B15 and B1 to W.K. and J.K.) through BMBF, Bonn, Germany.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kiess, W., Kratzsch, J., Keller, E. et al. Clinical Examples of Disturbed IGF Signaling: Intrauterine and Postnatal Growth Retardation due to Mutations of the Insulin-Like Growth Factor I Receptor (IGF-IR) Gene. Rev Endocr Metab Disord 6, 183–187 (2005). https://doi.org/10.1007/s11154-005-3049-5

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11154-005-3049-5

Keywords

Navigation