Molecular diagnosis and endocrine evaluation of a patient with a homozygous 7.0 kb deletion of the growth hormone (GH) gene cluster: Response to biosynthetic GH therapy

Journal of Pediatric Endocrinology and Metabolism

Volumn 10, Issue 2, 1997, Pages 185-190

  Perez Jurado L A ^a   Argente, J ^b,c   Barrios, V ^b   Pozo, J ^b   Munoz M T ^b   Hernandez M ^b   Francke, U ^a  

^a STANFORD UNIVERSITY   (United States)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

Author keywords

GH gene deletions; GH 1 gene; GHBP

Indexed keywords

DNA; GROWTH HORMONE; GROWTH HORMONE ANTIBODY; GROWTH HORMONE BINDING PROTEIN; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

ARTICLE; CASE REPORT; CHILD; DRUG RESPONSE; FEMALE; GENE CLUSTER; GENE DELETION; GENOTYPE; GROWTH HORMONE DEFICIENCY; HETEROZYGOTE; HUMAN;

ANTIBODIES; BODY HEIGHT; CARRIER PROTEINS; CHILD, PRESCHOOL; CONSANGUINITY; DNA; FEMALE; GENE DELETION; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN GROWTH HORMONE; HUMANS; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 8244264682     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Phillips JA III. Inherited defects in growth hormone synthesis and action. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease, 6th Ed. New York: McGraw-Hill, 1989; 1965-1983.
2. Laron Z, Kelijman M, Pertzelan A, Keret R, Shoffner JM, 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.
3. Goosens M, Brauner R, Czernichov P, Duquesnoy P, Rappaport R. Isolated growth hormone defici+ency type IA associated with a double deletion in the human GH gene cluster. J Clin Endocrinol Metab 1986; 62: 712-716.
4. Kamijo T, Phillips JA III. Detection of molecular heterogeneity in GH-1 gene deletion by analysis of polymerase chain reaction amplification products. J Clin Endocrinol Metab 1992; 74: 786-789.
5. Mullis PE, Akinci A, Kanaka CH, Eble A, Brook CGD. Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. Pediatr Res 1992; 31: 532-534.
6. Cogan JD, Phillips JA III, Sakati NA, Frisch H, Schoeber E, Milner D. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J Clin Endocrinol Metab 1993; 76: 1224-1228.
7. 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 Mol Genet 1993; 2: 1073-1074.
8. Pérez-Jurado LA, Argente J. Molecular basis of familial growth hormone deficiency. Horm Res 1994; 42: 189-197.
9. Illig R, Prader A, Ferrández A, Zachmann M. Hereditary prenatal growth hormone deficiency with increased tendency to growth hormone antibody formation ("A type" isolated growth hormone deficiency) Acta Paediatr Scand 1971; 60 [Suppl]: 607.
10. Cacciari E, Pirazzoli P, Gualandi S, Barancini C, Baldazzi L, Trevisani B, Capelli M, Zuchini 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 phenotypes. Eur J Pediatr 1994; 153: 635-641.
11. Baumann G, Stolar MW, Amburn K, Barsano CP, Devries BC. A specific growth hormone-binding protein in human plasma: Initial characterization. J Clin Endocrinol Metab 1986; 62: 134-141.
12. 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.
13. Stene M, Dawson K, Martha P, Reiter E, Holcomb J. Clinical availability of a rapid monoclonal-based assay for the high affinity GH binding protein. Proc 74th Annual Meeting of the Endocrine Society, 1992; 474 [Abstract].
14. Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975; 98:503-517.
15. Vnencak-Jones CL, Phillips JA III, De-fen W. Use of polymerase chain reaction in detection of growth hormone gene deletions. J Clin Endocrinol Metab 1990; 70: 1550-1553.
16. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. A simple sequence repeat polymorphism at the human growth hormone locus. Nucleic Acid Res 1991; 19: 689.
17. Argente J, Barrios V, Pozo J, Muñoz MT, Hervás F, Stene M, Hernández M. Normative data for insulin-like growth factors (IGFs), IGF-binding proteins, and growth hormone-binding protein in a healthy Spanish pediatric population: age and sex related changes. J Clin Endocrinol Metab 1993; 77: 1522-1528.
18. Martha PM Jr, Rogol AD, Blizzard RM, Shaw MA, Baumann G. Growth hormone-binding protein activity is inversely related to 24-hour growth hormone release in normal boys. J Clin Endocrinol Metab 1991; 73: 175-181.
19. Domené H, Krishnamurthi K, Eshet R, Gilad I, Laron Z, Koch I, Stannard B, Cassorla F, Roberts CT, LeRoith D. Growth hormone (GH) stimulates insulin-like growth factor-I (IGF-I) and IGF-I binding protein-3, but not GH receptor gene expression in livers of juvenile rats. Endocrinology 1993; 133: 675-682.