Skip to main content
Log in

GH Gene Deletions and IGHD Type IA

  • 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. Niall HD, Hogan ML, Sauer R, Rosenblum IY, Greenwood FC. Sequence of pituitary and placental lactogenic and growth hormones: Evolution from a primordial peptide by gene reduplication. Proc Nat Acad Sci 1971;68:866–869.

    Google Scholar 

  2. Chen EY, Liao Y-C, Smith DH, Barrera-Saldana HA, Gelinas RE, Seeburg PH. The human growth hormone locus: Nucleotide sequence, biology, and evolution. Genomics 1989;4:479–497.

    Google Scholar 

  3. Vnencak-Jones CL, Phillips JA. Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats. Science 1990;250:1745–1748.

    Google Scholar 

  4. Rimoin DL, Phillips JA, III. Genetic disorders of the pituitary gland. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Principles and Practice of Medical Genetics, 3rd ed. vol. I. New York: Churchill Livingstone, 1997.

    Google Scholar 

  5. Lacey KA, Parkin JM. Causes of short stature. Lancet 1974;i:42–45.

    Google Scholar 

  6. Rona RJ, Tanner JM. Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Child 1977;52:197–208.

    Google Scholar 

  7. Phillips JA III. Inherited defects in growth hormone synthesis and action. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th ed. vol. II. New York: McGraw-Hill, 1995:3023–3044.

    Google Scholar 

  8. Phillips JA III and Cogan JD. Genetic basis of endocrine disease 6: Molecular basis of familial human growth hormone deficiency. J Clin Endocr Metab 1994;78:11–16.

    Google Scholar 

  9. Phillips JA, Hjelle BL, Seeburg PH, Zachmann M. Molecular basis for familial isolated growth hormone deficiency. Proc Natl Acad Sci 1981;78:6372–6375.

    Google Scholar 

  10. Nishi Y, Aihara T, Usui T, Phillips JA, Malonee KL. Isolated growth hormone deficiency type IA in a Japanese. J Pediatr 1984;104:885–889.

    Google Scholar 

  11. Rivarola MA, Phillips III JA, Migeon CJ, Heinrich JJ, Hjelle BJ. Phenotypic heterogeneity in familial isolated growth hormone deficiency type Ia. J Clin Endocrinol Metab 1984;59:34–40.

    Google Scholar 

  12. Kamijo T, Phillips JA. Detection of molecular heterogeneity in GH-1 gene deletions by analysis of polymerase chain reaction amplification products. J Clin Endocrinol Metab 1992;74:786–789.

    Google Scholar 

  13. Frisch H, Phillips III JA. Growth hormone deficiency due to GHN gene deletion in an Austrian family. Acta Endocrinol Suppl 1986;279:107–112.

    Google Scholar 

  14. Schwarz S, Berger P, Frisch H, Moncayo R, Phillips JA III, Wick G. Growth hormone blocking antibodies in a patient with deletion of the GH-N gene. Clin Endocrinol 1987;27:213.

    Google Scholar 

  15. Mullis PE, Liechti-Gallati S, Di Silvio L, Brook CGD, Paes-Alves AF. Short stature in a patient with cystic fibrosis caused by a 6.7–kb human growth hormone gene deletion. Horm Res 1991;36:4–8.

    Google Scholar 

  16. Wagner JK, Eblé A, Hindmarsh PC, Mullis PE. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. Pediatr Res 1988;43:105–110.

    Google Scholar 

  17. Laron Z, Kelijman M, Pertzelan A, Keret R, Schoffner IM, Parks JS. Human growth hormone gene deletion without antibody formation or growth arrest during treatment-A new disease entity? Isr J Med Sci 1985;21:999–1006.

    Google Scholar 

  18. Braga S, Phillips JA III, Joss E, Schwarz H, Zuppinger K. Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster. Am J Med Genet 1986;25:443–452.

    Google Scholar 

  19. He YA, Chen SS, Wang YX, Lin XY, Wang DF. A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA. J Med Genet 1990;27:151–154.

    Google Scholar 

  20. Akinci A, Kanaka C, Eble A, Akar N, Vidinlisan S, Mullis PE. Isolated growth hormone (GH) deficiency type IA associated with a 45–kilobase gene deletion within the human GH gene cluster. J Clin Endocr Metab 1992;75:437–441.

    Google Scholar 

  21. Baroncini C, Baldazzi L, Pirazzoli P, Marchetti G, Capelli M, Cacciari E, Bernardi F. Deletion breakpoints in a 32bp perfect repeat located 45.1 kb apart in the human growth hormone gene cluster. Hum Molec Genet 1993;2:2151–2153.

    Google Scholar 

  22. Cacciari E, Pirazzoli P, Gualandi S, Baroncini C, Baldazzi L, Trevisani B, Capelli M, Zucchini S, Balsamo A, Cicognani A, Bernardi F. Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype. Eur J Pediatr 1994;153:635–641.

    Google Scholar 

  23. Ghizzoni L, Duquesnoy P, Torresani T, Vottero A, Goossens M, Bernasconi S. Isolated growth hormone deficiency type 1A associated with a 45–kilobase gene deletion within the human growth hormone gene cluster in an Italian family. Paediatr Res 1994;36:654–659.

    Google Scholar 

  24. Rygaard K, Revol A, Esquivel-Escobedo D, Beck BL, Barrera-Saldaña HA. Absence of human placental lactogen and placental growth hormone (HGH-V) during pregnancy: PCR analysis of the deletion. Hum Genet 1998;102:87–92.

    Google Scholar 

  25. Goossens M, Brauner R, Czernichow P, Duquesnoy P, Rappaport R. Isolated growth hormone (GH) deficiency type 1A associated with a double deletion in the human GH gene cluster. J Clin Endocr Metab 1986;62:712–716.

    Google Scholar 

  26. Illig R. Growth hormone antibodies in patients treated with different preparations of human growth hormone (hGH). J Clin Endocrinol Metab 1970;31:679–688.

    Google Scholar 

  27. Illig R, Prader A, Ferrandez A, Zachmann M. Hereditary prenatal growth hormone deficiency with increased tendency to growth hormone antibody formation ("A-type" isolated growth hormone deficiency). Acta Pediatr Scand Suppl 1971;60:607.

    Google Scholar 

  28. Vnencak-Jones CL, Phillips JA, De-Fen W. Use of polymerase chain reaction in detection of growth hormone gene deletions. J Clin Endocrinol Metab 1990;70:1550–1553.

    Google Scholar 

  29. Mullis PE, Akinci A, Kanaka C, Eble A, Brook CGD. Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. Pediat Res 1992;31:532–534.

    Google Scholar 

  30. Parks JS, Meacham LR, McKean MC, Keret R, Josefsberg Z, Laron Z. Growth hormone gene deletion is the most common cause of severe GH deficiency among oriental Jewish children. Pediatr Res 1989;25:90A.

    Google Scholar 

  31. Kamijo T, Phillips JA, III, Ogawa M, Yuan L-F, Shi Y-F and Bao X-I. Screening for growth hormone gene deletions in patients with isolated growth hormone deficiency. J Peds 1991;118:245–248.

    Google Scholar 

  32. Ruiz-Pacheco R, Chatelain P, Sizonenko PC, Bost M, Garandau P, Sultan C. Genetic and molecular analysis of familial isolated growth hormone deficiency. Hum Genet 1993;92:273–281.

    Google Scholar 

  33. Rosenfeld RG. Editorial: Is growth hormone deficiency a viable diagnosis? J Clin Endocr Metab 1997;82:349–351.

    Google Scholar 

  34. Fiddes JC, Seeburg PH, DeNoto FM, Hallewell RA, Baxter JD, Goodman HM. Structure of genes for human growth hormone and chorionic somatomammotropin. Proc Nat Acad Sci 1979;76:4294–4298.

    Google Scholar 

  35. Phillips JA III, Hjelle BL, Seeburg PH, Plotnick LP, Migeon CJ, Zachmann M. Heterogeneity in the molecular basis of familial growth hormone deficiency (IGHD). (Abstract) Am J Hum Genet 1981;33:52A.

    Google Scholar 

  36. Duquesnoy P, Amselem S, Gourmelen M, LeBouc Y, Goossens M. A frameshift mutation causing isolated growth hormone deficiency type 1A. (Abstract) Am J Hum Genet 1990;47:A110.

    Google Scholar 

  37. Cogan JD, Phillips III JA, Sakati N, Frisch H, Schober E, Milner DG. Heterogeneous growth hormone (GH) gene mutations in familialGH deficiency. J Clin Endocrinol Metab 1993;76:1224–1228.

    Google Scholar 

  38. Igarashi Y, Ogawa M, Kamijo T, Iwatani N, Nishi Y, Kohno H, Masumura T, Koga J. A new mutation causing inherited growth hormone deficiency: A compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene. Hum Molec Genet 1993;2:1073–1074.

    Google Scholar 

  39. Vnencak-Jones CL, Phillips JA, III, Chen EY, Seeburg PH. Molecular basis of human growth hormone gene deletions. Proc Nat Acad Sci 1988;85:5615–5619.

    Google Scholar 

  40. Procter AM, Phillips JA, III, Cooper DN. The molecular genetics of growth hormone deficiency. Hum Genet 1998;103:255–272.

    Google Scholar 

  41. Hauffa BP, Illig R, Torresani T, Stolecke H, Phillips JA. Discordant immune and growth response to pituitary and biosynthetic growth hormone in siblings with isolated growth hormone deficiency type 1A. Acta Endocrinol 1989;121:609–614.

    Google Scholar 

  42. Nishi Y, Masuda H, Nishimura S, Harahar M, Suwa S, Tachibana K, Takada M, Okada Y, Matsuda I. Isolated human growth hormone deficiency due to the hGH-1 gene deletion with (type IA) and without (the Israeli-type) hGH antibody formation during hGH therapy. Acta Endocrinol 1990;122:267–271.

    Google Scholar 

  43. Mullis PE, Brickell PM. The use of the polymerase chain reaction in prenatal diagnosis of growth hormone gene deletions. Clin Endocrinol 1992;37:89–95.

    Google Scholar 

  44. Blethen SL, Baptista J, Kuntze J, Foley T, LaFranchi S, Johanson A. Adult height in growth hormone (GH)-deficient children treated with biosynthetic GH. J Clin Endocr Metab 1997;82:418–420.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to John A. Phillips III.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Moseley, C.T., Orenstein, M.D. & Phillips, J.A. GH Gene Deletions and IGHD Type IA . Rev Endocr Metab Disord 3, 339–346 (2002). https://doi.org/10.1023/A:1020953608174

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1020953608174

Navigation