Genetic aspects

Laron Syndrome - From Man to Mouse: Lessons from Clinical and Experimental Experience

Volumn , Issue , 2011, Pages 29-52

  Shevah, Orit ^a   Laron, Zvi ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84895316163     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-642-11183-9_5     Document Type: Chapter

References (50)

1. Adam A, Josefsberg Z, Pertzelan A, Zadik Z, Chemke JM, Laron Z (1981) Occurrence of four types of growth hormonerelated dwarfism in Israeli communities. Eur J Pediatr 137:35-39
2. Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC, Goosens M (1989) Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med 321:989-995
3. Barton DE, Foellmer BE, Wood WI, Francke U (1989) Chromosome mapping of the growth hormone receptor gene in man and mouse. Cytogenet Cell Genet 50:137-141
4. Battin J (1996) Malformations et maladies genetiques dans l'art et les cultures. Histoire des Sci Med 30:1-13
5. Baumann G, Shaw MA, Merimee TJ (1989) Low levels of high affinity growth hormone binding protein in African pygmies. N Engl J Med 320:1705-1709
6. Baumbach L, Schiavi A, Bartlett R, Perera E, Day J, Brown MR, Stein S, Eidson M, Parks JS, Cleveland W (1997) Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron's syndrome). J Clin Endocrinol Metab 82:444-451
7. 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 Ecuadorean patients with Laron syndrome. Hum Mutat 1:24-32
8. Berg MA, Peoples R, Perez-Jurado L, Guevara-Aguirre J, Rosenbloom AL, Laron Z, Milner RDG, Franke U (1994) Receptor mutations and haplotypes in growth hormone receptor deficiency: A global survey and identification of the Ecuadorian E180splice mutation in an oriental Jewish patient. Acta Pediatr SUPPL399:112-114
9. Bozzola M, Travaglino P, Marziliano N, Meazza C, Pagani S, Grasso M, Tauber M, Diegoli M, Pilotto A, Disabella E, Tarantino P, Brega A, Arbustini E (2009) The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor. Mol Genet Metab 98(3): 310-313
10. Brown MR, Meacham LR, Pfaffle RW, Murphy TC, Keret R, Klinger B, Laron Z, Parks JS The molecular defect in Laron syndrome-exon deletions. In: Laron Z, Parks JS (eds) Lessons from Laron syndrome (LS) 1966-1992. Pediatr Adolesc Endocrinol. Basel, Karger, 1993, vol 24, pp 127-131
11. Brown P, Sutikna T, Morwood MJ, Soejono RP, Jatmiko W, Saptomo E, Due RA (2004) A new small bodied hominin from the Late Pleistocene of Flores, Indonesia. Nature 431:1055-1061
12. Cogan JD, Phillips JA (2006) GH1 gene deletions and IGHD type 1A. Ped Endocrinol Rev 3:480-488
13. David A, Camacho Hubner C, Bhangoo A, Rose SJ, Miraki Moud F, Akker SA, Butler GE, Ten S, Clayton PE, Clark AJ, Savage MO, Metherell LA (2007) An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes. J Clin Endocrinol Metab 92:655-659
14. Desai MP, Colaco P, Choksi CS, Sanghavi KP, Ambedkar MC, Vaz FEE (1993) Endogenous growth hormone nonresponsive dwarfism in Indian children. In: Laron Z, Parks JS (eds) Lessons from Laron syndrome (LS) 1966-1992. A Model of GH and IGF-I Action and Interaction. Pediatr Adolesc Endocrinol, vol 24. Karger, Basel, pp 81-92
15. Eshet R, Laron Z, Pertzelan A, Dintzman M (1984) Defect of human growth hormone in the liver of two patients with Laron type dwarfism. Isr J Med Sci 20:8-11
16. Espinosa C, Sjoberg M, Salazar T, Rodriguez A, Cassorla FG, Mericq MV, Carvallo P (2008) E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: A probable common Mediterranean ancestor. J Pediatr Endocrinol Metab 21:1119-1127
17. Gastier JM, Berg MA, Vesterhus P, Reiter EO, Francke U (2000) Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome. Hum Mutat 16:323-333
18. Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R, Rotwein PS, Parks JS, Laron Z, Wood WI (1989) Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in 2 patients with Laron type dwarfism. Proc Natl Acad Sci USA 86:8083-8087
19. Herington AC, Ymer S, Stevenson J (1986) Identification and characterization of specific binding proteins for growth hormone in normal human sera. J Clin Invest 77:1817-1823
20. Hershkovitz I, Kornreich L, Laron Z (2007) Comparative skeletal features between homo floresiensis and patients with primary growth hormone insensitivity (Laron syndrome). Am J Phys Anthropol 134:198-208
21. Jorge AA, Menezes Filho HC, Lins TS, Guedes DR, Damiani D, Setian N, Arnhold IJ, Mendonça BB (2005) Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity. Arq Bras Endocrinol Metabol 49:384-389
22. Laron Z, Pertzelan A, Karp M (1968) Pituitary dwarfism with high serum levels of growth hormone. Isr J Med Sci 4:883-894
23. Laron Z, Klinger B, Eshet R, Kaneti H, Karasik A, Silbergeld A (1993) Laron syndrome due to a post-receptor defect: Response to IGF-1 treatment. Isr J Med Sci 29:757-763
24. Lenz W (1963) Medical genetics. University of Chicago, Chicago, p 48
25. Leung DW, Spencer SA, Cachianes G, Hammonds RG, Collins C, Henzel WJ, Barnard R, Waters MJ, Woods WI (1987) Growth hormone receptor and serum binding protein: Purification, cloning and expression. Nature 330:537-543
26. Meacham LR, Brown MR, Murphy TL, Keret R, Silbergeld A, Laron Z, Parks JS (1993) Characterization of a noncontiguous gene deletion of the growth hormone receptor in Laron's syndrome. J Clin Endocrinol Metab 77:1379-1383
27. Merimee T, Laron Z. 1996 Growth hormone, IGF-I and growth: New views of old concepts. Modern Endocrinology And Diabetes 4, Freund, London-Tel Aviv
28. Merimee T, Baumann G, Daughaday W. 1990) Growth hormone binding protein II. Studies in Pygmies and normal statured subjects. J Clin Endocrinol Metab 71 1183-1188
29. Morwood MJ, Brown P, Jatmiko W, Sutikna T, Wahyu Saptomo E, Westaway KE, Due RA, Roberts RG, Maeda T, Wasisto S, Djubiantono T (2005) Further evidence for small bodied hominins from the Late Pleistocene of Flores, Indonesia. Nature 437:1012-1017
30. Mullis PE (2007) Genetics of growth hormone deficiency. Endocrinol Metab Clin North Am 36:17-36
31. Orita M, Suzuki Y, Sekiya T, Hayaski K (1989) Rapid and sensitive detection of point mutations and DNA polymorphism using the polymerase chain reaction. Genomics 5:874-879
32. Parks JS, Brown MR, Hurley DL, Phelps CJ, Wajnrajch MP (1999) Heritable disorders of pituitary development. J Clin Endocrinol Metab 84:4362-4370
33. Partiff T (2003) Constructing black Jews: Genetic tests and the Lemba-The Black Jews of South Africa. Dev World Bioeth 3:112-118
34. Pertzelan A, Adam A, Laron Z (1968) Genetic aspects of pituitary dwarfism due to absence or biological activity of growth hormone. Isr J Med Sci 4:895-900
35. Pinto EM, Meyer D, Laron Z, Damiani D, Lins TSS, Shevah O, Otto P, Mendoca BB, Arhhold IJP, Jorge AAL (2008) Founder effect of E180 splice mutation in GHR gene from Brazilian and Moroccan families with Laron syndrome (Abstract P2-556). 90th Annual Meeting of the American Endocrine Society, San Francisco, USA, June 15-18, 2008. Program and Abstracts Book, p 537
36. Rosenbloom AL, Guevara-Aguirre J (1998) Lessons from the genetics of Laron syndrome. Trends Endocrinol Metab 9:276-283
37. Rosenbloom AL, Guevara-Aguirre J (2008) Growth hormone receptor deficiency in South America: Colonial history, molecular biology, and growth and metabolic insights. J Pediatr Endocrinol Metab 21:1107-1119
38. Rosenbloom AL, Guevara Aguirre J, Rosenfeld RG, Fielder PJ (1990) The little women of Loja-Growth hormone receptor deficiency in an inbred population of Southern Ecuador. N Engl J Med 323:1367-1374
39. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J (1994) Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 15:369-390
40. Russell RE, Parks JS, McKean MC, Bell GI, Keret R, Kelijman M, Laron Z (1989) Laron-Type dwarfism is associated with normal growth hormone and insulin-Like growth factor I gene restriction patterns. Isr J Med Sci 25:342-344
41. Shevah O, Laron Z (2006) Genetic analysis of the pedigrees and molecular defects of the GH-receptor gene in the Israeli cohort of patients with Laron syndrome. Pediatr Endocrinol Rev 3(SUPPL3):489-497. Erratum in: Pediatr Endocrinol Rev 2007, 5:470
42. Shevah O, Laron Z (2007) Patients with congenital deficiency of IGF-I seem protected from the development of malignancies: A preliminary report. Growth Horm IGF Res 17:54-57
43. Shevah O, Nunez O, Rubinstein M, Laron Z (2002) Intronic mutation in the growth hormone receptor gene in a Peruvian girl with Laron syndrome. J Pediatr Endocrinol Metab 15:1039-1040
44. Shevah O, Borrelli P, Rubinstein M, Laron Z (2003) Identification of two novel mutations in the human growth hormone receptor gene. J Endocrinol Invest 26:604-608
45. Shevah O, Rubinstein M, Laron Z (2004) Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: Relationship between defects and ethnic groups. Isr Med Assoc J 6:630-633
46. Silbergeld A, Dastot F, Klinger B, Kanety H, Eshet R, Amselem S, Laron Z (1997) 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. J Pediatr Endocrinol Metab 10:265-274
47. Turnbull CM (1961) The forest people. Simon&Schouster, New York
48. Vesterhus P (1997) Growth hormone resistance. Genetic defects and therapy in Laron syndrome and similar conditions. Tidsskr Nor Laegeforen 117:948-951
49. Walker JL, Crock PA, Behncken SN, Rowlinson SW, Nicholson LM, Boulton TJ, Waters MJ (1998) A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long term treatment with recombinant human insulin like growth factor I and luteinizing hormone releasing hormone analogue. J Clin Endocrinol Metab 83:2554-2561
50. Woods KA, Savage MO (1996) Laron syndrome: Typical and atypical forms. Baillieres Clin Endocrinol Metab 10: 371-387