Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: Extended phenotypic study in a very large pedigree

Journal of Pediatric Endocrinology and Metabolism

Volumn 10, Issue 3, 1997, Pages 265-274

  Silbergeld, Aviva ^a   Dastot, Florence ^e   Klinger, Beatrice ^b   Kanety, Hanna ^c,d   Eshet, Rina ^a   Amselem, Serge ^e   Laron, Zvi ^b  

^a RABIN MEDICAL CENTER   (Israel)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR;

CHILD; CONFERENCE PAPER; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; INTRON; ISRAEL; PHENOTYPE;

EID: 0030918549     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.1997.10.3.265     Document Type: Conference Paper

References (26)

1. Laron Z, Blum W, Chatelain P, Ranke M, Rosenfeld R, Savage M, Underwood L. Classification of growth hormone insensitivity syndrome. J Pediatr 1993; 122: 241.
2. Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R, Rotwein PS, Parks JS, Laron Z, Wood WI. Characterisation 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 1989; 86: 8083-8087.
3. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor defect. Endocr Rev 1994; 15: 369-390.
4. Amselem S, Sobrier M-L, Dastot F, Dusquesnoy P, Duriez B, Goosens M. Molecular basis of inherited growth hormone resistance in childhood. In: Ross RJM, Savage M, eds. Growth Hormone Resistance. Bailliere's Clin Endocrinol Metab 1996; 10: 353-370.
5. Leung DW, Spencer SA, Cachianes G, Hammonds RG, Collins C, Henzel WJ, Barnard R, Waters MJ, Wood WI. Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature 1987; 330: 537-543.
6. Dastot F, Sobrier M-L, Duquesnoy P, Duriez B, Goossens M, Amselem S. Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH binding protein Proc Natl Acad Sci USA 1996; 93: 10723-10728.
7. Daughaday WH, Trivedi B. Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). Proc Natl Acad Sci USA 1987; 84: 4636-4640.
8. Baumann G, Shaw MA, Winter RJ. Absence of plasma growth hormone-binding protein in Laron-type dwarfism. J Clin Endocrinol Metab 1987; 65: 815-816.
9. Laron Z, Klinger B, Erster B, Silbergeld A. Serum GH binding protein activity identifies the heterozygous carriers for Laron-type dwarfism. Acta Endocrinol (Copenh) 1989; 121: 603-608.
10. Maheshwari HG, Clayton PE, Mughal Z, Price DA. Laron-type dwarfism: the GH-BP positive phenotype. In: Laron Z, Parks JS, eds. Lessons from Laron Syndrome (LS) 1966-1992. Basel: Karger, Pediatr Adolesc Endocrinol 1993; 24: 160-166.
11. Laron Z, Klinger B, Eshet R, Kanety H, Karasik A, Silbergeld A. Laron syndrome due to a post-receptor defect: reponse to IGF-I treatment. Isr J Med Sci 1993; 29: 757-763.
12. Woods KA, Fraser NC, Postel-Vinay M-C, Dusquenoy P, Savage MO, Clark AJL. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab 1996; 81: 1686-1690.
13. Silbergeld A, Lazar L, Erster B, Keret R, Tepper R, Laron Z. Serum growth hormone binding protein activity in neonates, children and young adults: correlation with age, height and weight. Clin Endocrinol 1989: 31: 295-303.
14. Herington AC, Ymer S, Stevenson J. Identification and characterisation of specific binding proteins for growth hormone in normal human sera. J Clin Invest 1986; 77: 1817-1823.
15. Kanety H, Karasik A, Klinger B, Silbergeld A, Laron Z. Long term treatment of Laron type dwarfs with IGF-I increases serum IGFBP-3 in the absence of GH activity. Acta Endocrinol 1993; 128: 144-149.
16. Hossenlopp P, Seurin D, Segovia-Quinson B, Hardouin S, Binoux M. Analysis of serum insulin-like growth factor binding proteins using Western blotting: using the method for titration of binding proteins and competitive binding studies. Ann Biochem 1986; 154: 138-143.
17. Amselem S, Dusquenoy P, Duriez B, Dastot F, Sobrier M-L, Valleix S, Goossens M. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Hum Mol Genet 1993:2: 255-259.
18. Gyllenstein UB, Erlich HA. Generation of single-strand DNA by the polymerase chain reaction and its application to direct sequencing of HLS-DQA locus. Proc Natl Acad Sci USA 1988; 85: 7652-7656.
19. Shapiro MB, Senepathty P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucl Acid Res 1987; 15: 7155-7174.
20. Baumann G, Lowman HB, Mercado M, Wells JA. The stochiometry of growth hormone binding protein complexes in human plasma; comparison with cell surface receptors. J Clin Endocrinol Metab 1994; 78: 1113-1118.
21. Baumann G, Shaw MA. A second, lower affinity growth hormone-binding protein in human plasma. J Clin Endocrinol Metab 1990; 70: 680-686.
22. Baumann G, Shaw MA, Buchanan TA. In vivo kinetics of a covalent growth hormone-binding protein complex. Metabolism 1989; 38: 330-333.
23. Fairhall KM, Carmignac DF, Robinson ICA. Growth hormone (GH) binding protein and GH interactions in vivo in the guinea pig. Endocrinology 1992; 131: 1963-1969.
24. Rieu X, LeBouc Y, Villares SM, Postel-Vinay M-C. Familial short stature with very high levels of growth hormone binding protein. J Clin Endocrinol Metab 1993; 76: 857-860.
25. Mannor D, Winer L, Shaw M, Baumann G. Plasma growth hormone (GH)-binding proteins: effect on GH binding to receptors and GH action. J Clin Endocrinol Metab 1991; 73: 30-34.
26. Goddard AD, Covello R, Shiuh-Ming L, Clackson T, Attie KM, Gesundheit N, Rundle AM, Wells JA, Carlsson LMS. Mutation of the growth hormone receptor in children with idopathic short stature. N Engl J Med 1995; 333: 1093-1098.