Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene

New England Journal of Medicine

Volumn 335, Issue 18, 1996, Pages 1363-1367

  Woods, Katie A ^a   Camacho Hübner, Cecilia ^a   Savage, Martin O ^a   Clark, Adrian J L ^a  

^a ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN C;

ADOLESCENT; ARTICLE; CASE REPORT; CONGENITAL DEAFNESS; GENE DELETION; GROWTH DISORDER; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRAUTERINE GROWTH RETARDATION; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; POSTNATAL GROWTH; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; EXONS; FETAL GROWTH RETARDATION; GENE DELETION; GROWTH DISORDERS; HEARING LOSS, SENSORINEURAL; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE; MENTAL RETARDATION; MICROCEPHALY;

EID: 0029805072     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199610313351805     Document Type: Article

References (31)

1. Salmon WD Jr, Daughaday WH. A hormonally controlled serum factor which stimulates sulfate incorporation by cartilage in vitro. J Lab Clin Med 1957;49:825-36.
2. Woods KA, Weber A, Clark AJL. The molecular pathology of pituitary hormone deficiency and resistance. In: Thakker R, ed. Genetic and molecular biological aspects of endocrine disease. London: Baillière Tindall, 1995:453-87.
3. Gluckman PD, Gunn AJ, Wray A, et al. Congenital idiopathic growth hormone deficiency associated with prenatal and early postnatal growth failure: the International Board of the Kabi Pharmacia International Growth Study. J Pediatr 1992;121:920-3.
4. Savage MO, Blum WF, Ranke MB, et al. Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). J Clin Endocrinol Metab 1993;77:1465-71.
5. Liu J-P, Baker J, Perkins AS, Robertson EJ, Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 1993;75:59-72.
6. Baker J, Liu J-P, Robertson EJ, Efstratiadis A. Role of insulin-like growth factors in embryonic and postnatal growth. Cell 1993;75:73-82.
7. Powell-Braxton L, Hollingshead P, Warburton C, et al. IGF-I is required for normal embryonic growth in mice. Genes Dcv 1993;7:2609-17.
8. Han VK, Lund PK, Lee DC, D'Ercole AJ. Expression of somatomedin/ insulin-like growth factor messenger ribonucleic acids in the human fetus: identification, characterization, and tissue distribution. J Clin Endocrinol Metab 1988;66:422-9.
9. Lassarre C, Hardouin S, Daffos F, Forestier F, Frankenne F, Binoux M. Serum insulin-like growth factors and insulin-like growth factor binding proteins in the human fetus: relationships with growth in normal subjects and in subjects with intrauterine growth retardation. Pediatr Res 1991;29: 219-25.
10. Gluckman PD. The endocrine regulation of fetal growth in late gestation: the role of insulin-like growth factors. J Clin Endocrinol Metab 1995; 80:1047-50.
11. Giudice LC, de Zegher F, Gargosky SE, et al. Insulin-like growth factors and their binding proteins in the term and preterm human fetus and neonate with normal and extremes of intrauterine growth. J Clin Endocrinol Mctab 1995;80:1548-55.
12. Beck KD, Powell-Braxton L, Widmer H-R, Valverde J, Hefti F. IgfI gene disruption results in reduced brain size, CNS hypomyelination, and loss of hippocampal granule and striatal parvalbumin-containing neurons. Neuron 1995;14:717-30.
13. Freeman JV, Cole TJ, Chinn S, Jones PRM, White EM, Preece MA. Cross sectional stature and weight reference curves for the UK, 1990. Arch Dis Child 1995;73:17-24.
14. Naeye RL. Do placental weights have clinical significance? Hum Pathol 1987;18:387-91.
15. Cameron N. The methods of auxological anthropometry. In: Falkner F, Tanner JM, eds. Human growth. Vol. 2. Postnatal growth. New York: Plenum Press, 1978:35-90.
16. Trainer PJ, Besser GM. The Barts endocrine protocols. London: Churchill Livingstone, 1995.
17. Morrell DJ, Dadi H, More J, et al. A monoclonal antibody to human insulin-like growth factor-I: characterization, use in radioimmunoassay and effect on the biological activities of the growth factor. J Mol Endocrinol 1989;2:201-6.
18. Blum WF, Ranke MB, Bicrich JR. A specific radioimmunoassay for insulin-like growth factor II: the interference of IGF binding proteins can be blocked by excess IGF-I. Acta Endocrinol (Copenh) 1988;118:374-80.
19. Hossenlopp P, Seurin D, Segovia-Quinson B, Hardouin S, Binoux M. Analysis of serum insulin-like growth factor binding proteins using Western blotting: use of the method for titration of the binding proteins and competitive binding studies. Anal Biochem 1986;154:138-43.
20. Amselem S, Duquesnoy P, Attree O, et al. Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med 1989;321: 989-95.
21. Brissenden JE, Ullrich A, Francke U. Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor. Nature 1984;310:781-4.
22. Chew SJ, Lavender P, Clark AJL, Ross RJM. An alternatively spliced human insulin-like growth factor-I transcript with hepatic tissue expression that diverts away from the mitogenic IBE1 peptide. Endocrinology 1995; 136:1939-44.
23. Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr, Leibel RL. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet 1996;12:88-90.
24. Gargosky SE, Wilson KF, Fielder PJ, et al. The composition and distribution of insulin-like growth factors (IGFs) and IGF binding proteins (IGFBPs) in the serum of growth hormone receptor-deficient patients: effects of IGF-I therapy on IGFBP-3. J Clin Endocrinol Metab 1993;77:1683-9.
25. Hardouin S, Gourmelen M, Noguiez P, et al. Molecular forms of serum insulin-like growth factor (IGF)-binding proteins in man: relationships with growth hormone and IGFs and physiological significance. J Clin Endocrinol Metab 1989;69:1291-301.
26. Zapf J, Hauri C, Waldvogel M, et al. Recombinant human insulin-like growth factor I induces its own specific carrier protein in hypophysectomized and diabetic rats. Proc Natl Acad Sci U S A 1989;86:3813-7.
27. Baxter RC. Circulating levels and molecular distribution of the acid-labile (alpha) subunit of the high molecular weight insulin-like growth factor-binding protein complex. J Clin Endocrinol Metab 1990;70:1347-53.
28. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 1994;15:369-90.
29. Isaksson OG, Lindahl A, Nilsson A, Isgaard J. Mechanism of the stimulatory effect of growth hormone on longitudinal bone growth. Endocr Rev 1987;8:426-38.
30. D'Ercole AJ. Expression of insulin-like growth factor-I in transgenic mice. Ann N Y Acad Sci 1993;692:149-60.
31. 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;333:1093-8.