A Homozygous Splice Site Mutation Affecting the Intracellular Domain of the Growth Hormone (GH) Receptor Resulting in Laron Syndrome with Elevated GH-Binding Protein

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 5, 1996, Pages 1686-1690

  Woods, Katie A ^a   Fraser, Neil C ^b   Postel Vinay, Marie Catherine ^c   Savage, Martin O ^a   Clark, Adrian J L ^a  

^a ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^b HEREFORD COUNTY HOSPITAL   (United Kingdom)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR; GUANINE; MUTANT PROTEIN;

ARTICLE; CASE REPORT; CHILD; FEMALE; GENE MUTATION; HOMOZYGOSITY; HORMONE RESISTANCE; HUMAN; HUMAN CELL; LARON SYNDROME; LYMPHOBLASTOID CELL LINE; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; SHORT STATURE;

BASE SEQUENCE; CARRIER PROTEINS; DNA, COMPLEMENTARY; DRUG RESISTANCE; EXONS; GROWTH DISORDERS; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, SOMATOTROPIN; RNA SPLICING; SYNDROME;

EID: 0029879642     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.81.5.8626815     Document Type: Article

References (30)

1. Savage MO, Blum WF, Ranke MB, et al. 1993 Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). J Clin Endocrinol Metab. 77:1465-1471.
2. Laron Z, Pertzelan A, Mannheimer S. 1966 Genetic pituitary dwarfism with high serum concentration of growth hormone - a new inborn error of metabolism? Isr J Med Sci. 2:152-155.
3. Godowski PJ, Leung DW, Meacham LR, et al. 1989 Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci USA. 86:8083-8087.
4. Amselem S, Duquesnoy P, Attree O, et al. 1989 Laron dwarfism and mutations of the growth hormone receptor gene. N Engl J Med. 321:989-995.
5. Amselem S, Sobrier M-L, Duquesnoy P, et al. 1991 Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. J Clin Invest. 87:1098-1102.
6. Berg MA, Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG, Francke U. 1992 Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome. Hum Mutat. 1:24-34.
7. Berg MA, Argente J, Chernausek S, et al. 1993 Diverse growth hormone receptor gene mutations in Laron syndrome. Am J Hum Genet. 52:998-1005.
8. Amselem S, Duquesnoy P, Duriez B, et al. 1993 Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Hum Mol Genet. 2:355-359.
9. Duquesnoy P, Sobrier M-L, Duriez B, et al. 1994 A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. EMBO J. 13:1386-1395.
10. Leung DW, Spencer SA, Cachianes G, et al. 1987 Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature. 330: 537-543.
11. Bazin JF. 1990 Structural design and molecular evolution of a cytokine receptor superfamily. Proc Natl Acad Sci USA. 87:6934-6938.
12. Kou K, Lajara R, Rotwein P. 1993 Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome. J Clin Endocrinol Metab. 76:54-59.
13. Veldhuis JD, Johnson ML, Faunt LM, Mercado M, Baumann G. 1993 Influence of the high-affinity growth hormone (GH)-binding protein on plasma profiles of free and bound GH and on the apparent half life of GH. J Clin Invest. 91:629-641.
14. Baumann G, Amburn K, Buchanan TA. 1987 The effect of circulating growth hormone binding protein on metabolic clearance, distribution and degradation of human growth hormone. J Clin Endocrinol Metab. 64:657-660.
15. Baumbach WR, Horner DL, Logan JS. 1989 The growth hormone binding protein in rat serum is an alternatively spliced form of the rat growth hormone receptor. Genes Dev. 3:1199-1205.
16. Sotiropoulos A, Goujon L, Simonin G, Postel-Vinay M-C, Finidori J. 1993 Evidence for the generation of the growth hormone-binding protein through proteolysis of the growth hormone membrane receptor. Endocrinology. 132: 1863-1865.
17. Daughaday WH, Trivedi B. 1987 Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). Proc Natl Acad Sci USA. 84:4636-4640.
18. Buchanan CR, Maheshwari HG, Norman MR, Morrell DJ, Preece MA. 1991 Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein. Clin Endocrinol (Oxf). 35:179-185.
19. Goujon L, Allevato G, Simonin G, et al.. 1994 Cytoplasmic sequences of the growth hormone receptor necessary for signal transduction. Proc Natl Acad Sci USA. 91:957-961.
20. Billestrup N, Allevato G, Norstedt G, Moldrup A, Neilsen JH. 1994 Identification of intracellular domains in the growth hormone receptor involved in signal transduction [Review]. Proc Soc Exp Biol Med. 206:205-209.
21. Sotiropoulos A, Perrot-Applanat M, Dinerstein H, et al. 1994 Distinct cytoplasmic regions of the growth hormone receptor are required for activation of JAK2, mitogen-activated protein kinase, and transcription. Endocrinology. 135:1292-1298.
22. Wang Y-D, Wood WI. 1995 Amino acids of the human growth hormone receptor that are required for proliferation and JAK-STAT signalling. Mol Endocrinol. 9:303-307.
23. Blum WF. 1992 Insulin-like growth factors and their binding proteins. In: Ranke MB, ed. Functional endocrinologic diagnosis in children and adolescents. Mannheim: Verlag; 102-117.
24. Bang P, Eriksson U, Sara V, Wivall IL, Hall K. 1991 Comparison of acid ethanol extraction and acid gel filtration prior to IGF-I and IGF-II radioimmunoassays: improvement of determinations in acid ethanol extracts by the use of truncated IGF-I as radioligand. Acta Endocrinol (Copenh). 124: 620-629.
25. Blum WF, Ranke MB, Kietzmann K, Gauggel E, Zeisel HJ, Bierich JR. 1990 A specific radioimmunoassay for the growth hormone (GH)-dependent somatomedin-binding protein: its use for diagnosis of GH deficiency. J Clin Endocrinol Metab. 70:1292-1298.
26. Tar A, Hocquette JF, Souberbielle JC, Clot JP, Brauner R, Postel-Vinay MC. 1990 Evaluation of the growth hormone-binding proteins in human plasma using high pressure liquid chromatography gel filtration. J Clin Endocrinol Metab. 71:1202-1207.
27. Munson PJ, Rodbard D. 1980 Ligand: a versatile computerised approach for characterisation of ligand-binding systems. Anal Biochem. 107:220-239.
28. Shapiro MB, Senapathy P. 1987 RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:7155-7174.
29. Fontoura M, Mugnier E, Brauner R, Rappaport R, Postel-Vinay MC. 1992 Effect of growth hormone on the low level of growth hormone binding protein in idiopathic short stature. Clin Endocrinol (Oxf). 37:249-253.
30. Silbergeld A, Klinger B, Keret R, Eshet R, Almonte AS, Laron Z. 1994 Serum growth hormone-binding protein (GHBP) activity is decreased by administration of insulin-like growth factor I in three Laron syndrome siblings with normal GHBP. Proc Soc Exp Biol Med. 206:324-327.