Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene

Clinical Endocrinology

Volumn 60, Issue 4, 2004, Pages 470-475

  Alba, Maria ^a   Hall, Catherine M ^b   Whatmore, Andrew J ^b   Clayton, Peter E ^b   Price, David A ^b   Salvatori, Roberto ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR RECEPTOR; RECOMBINANT GROWTH HORMONE;

ADENOHYPOPHYSIS; ARTICLE; CALCULATION; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; MALE; MORPHOLOGY; ORGAN SIZE; PREPUBERTY; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SIBLING;

CHILD; CHILD, PRESCHOOL; FEMALE; GROWTH DISORDERS; GROWTH HORMONE; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PITUITARY GLAND, ANTERIOR; POINT MUTATION; RECEPTORS, NEUROPEPTIDE; RECEPTORS, PITUITARY HORMONE-REGULATING HORMONE; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

EID: 1842684167     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2004.02003.x     Document Type: Article

References (39)

1. Adams, M.D., Rudner, D.Z. & Rio, D.C. (1996) Biochemistry and regulation of pre-mRNA splicing. Current Opinions in Cell Biology 8, 331-339.
2. Argyropoulou, M., Perignon, F., Brunelle, F., Brauner, R. & Rappaport, R. (1991) Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children. Pediatric Radiology 21, 247-249.
3. Binder, G., Nagel, B.H., Ranke, M.B. & Mullis, P.E. (2002) Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin. European Journal of Endocrinology 147, 755-760.
4. Byers, P.H. (2002) Killing the messenger: new insights into nonsensemediated mRNA decay. Journal of Clinical Investigation 109, 3-6.
5. Carakushansky, M., Whatmore, A.J., Clayton, P.E., Shalet, S.N., Gleeson, H.K., Price, D.A., Levine, M.A. & Salvatori, R. (2003) A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. European Journal of Endocrinology 148, 25-30.
6. Cogan, J.D. & Phillips, J.A. III (1998) Growth disorders caused by genetic defects in the growth hormone pathway GH deficiency. In: Advances in Pediatrics (eds L.A. Barness, G. Morron III, A.M. Rudolph., D.C. De Vivo, M.M. Kaback & W.W. Tunnessen Jr) St Louis, Mosby, 337-361.
7. Collins, F.S., Brooks, L.D. & Chakravarti, A. (1998) A DNA polymorphism discovery resource for research on human genetic variation. Genetic Research 8, 1229-1231.
8. Di Chiro, G. & Nelson, K.B. (1962) The volume of the sella turcica. American Journal of Roentgenology 87, 989-1008.
9. Faustino, N.A. & Cooper, T.A. (2003) Pre-mRNA splicing and human disease. Genes and Development 17, 419-437.
10. Gaylinn, B.D. (2002) Growth hormone releasing hormone receptor. Receptors and Channels 8, 155-162.
11. Gill, M.S., Whatmore, A.J., Tillman, V., White, A., Addison, G.M., Price, D.A. & Clayton, P.E. (1997) Urinary IGF and IGF binding protein-3 in children with disordered growth. The North West Paediatric Endocrine Group. Clinical Endocrinology 46, 483-92.
12. Greulich, W.W. & Pyle, S.I. (1959) A radiographic atlas of skeletal development of the hand and wrist. 2nd Edition. Stanford University Press, Stanford, CA, USA.
13. Hamilton, J., Blaser, S. & Daneman, D. (1998) MR imaging in idiopathic growth hormone deficiency. American Journal of Neuroradiology 19, 1609-1615.
14. Horikawa, R. (2002) Isolated GH deficiency due to inactivating mutation of GHRH-R. Nippon Rinsho 60, 297-305.
15. Hussain, R. & Bittles, A.H. (1998) The prevalence and demographic characteristics of consanguineous marriages in Pakistan. Journal of Biosocial Science 30, 261-275.
16. Hutchesson, A.C., Bundey, S., Preece, M.A., Hall, S.K. & Green, A.A. (1998) Comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. Journal of Medical Genetics 35, 366-370.
17. Lee, E.J., Kotlar, T.J., Ciric, I., Lee, M.K., Lim, S.K., Lee, H.C., Huh, K.B., Mayo, K.E. & Jameson J.L. (2001) Absence of constitutively activating mutations in the GHRH receptor in GH-producing pituitary tumors. Journal of Clinical Endocrinology and Metabolism 86, 3989-3995.
18. Maghnie, M., Triulzi, F., Larizza, D., Scotti, G., Beluffi, G., Cecchini, A. & Seven, F. (1990) Hypothalamic-pituitary dwarfism: comparison between MR imaging and CT findings. Pediatric Radiology 20, 229-335.
19. Maheshwari, H.G., Silverman, B.L., Dupuis, J. & Baumann, G. (1998) Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: dwarfism of Sindh. Journal of Clinical Endocrinology and Metabolism 83, 4065-4074.
20. Mayo, K.E., DeAlmeida, V., Godfrey, P., Zheng, J. & Cunha, R.S. (2000) Regulation of somatotoph cell by GHRH and its receptor. Recent Progress in Hormone Research 55, 237-266.
21. Millar, D.S., Lewis, M.D., Horan, M., Newsway, V., Easter, T.E., Gregory, J.W., Fryklund, L., Norin, M., Crowne, E.C., Davies, S.J., Edwards, P., Kirk, J., Waldron, K., Smith, P.J., Phillips, J.A. III, Scanlon, M.F., Krawzak, M., Cooper, D.N. & Procter, A.M. (2003) Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature. Human Mutation 21, 424-440.
22. Miller, K.M., Ming, T.J., Schulze, A.D. & Withler, R.E. (1999) Denaturing gradient gel electrophoresis (DGGE): a rapid and sensitive technique to screen nucleotide sequence variation in populations. Biotechniques 27, 1016-1018.
23. Murray, R.A., Maheshwari, H.G., Russell, E.J. & Baumann, G. (2000) Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. American Journal of Neuroradiology 21, 685-689.
24. Oliveira, H.A., Salvatori, R., Krauss, M.P.O., Oliveira, C.R., Silva, P.R. & Aguiar-Oliveira, M.H. (2003) Magnetic resonance imaging study of pituitary morphology in subjects homozygous for a null mutation of the growth hormone releasing hormone receptor gene. European Journal of Endocrinology 148, 427-432.
25. Osorio, M., Marui, S., Jorge, A.A., Latronico, A.C., Leite, L.S., Estefan, V, Mendonca, B.B. & Arnhold, I.J. (2002) Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in the GHRH-R, GH-1, or PROP-1 genes. Journal of Clinical Endocrinology and Metabolism 87, 5076-5081.
26. Perez Jurado, L.A., Phillips, J.A. III & Francke, U. (1994) Exclusion of growth hormone-releasing hormone gene mutations in familial isolated growth hormone deficiency by linkage and single strand conformation analysis. Journal of Clinical Endocrinology and Metabolism 78, 622-628.
27. Salvatori, R., Hayashida, C.Y., Aguilar-Oliveira, M.H., Phillips, J.A. III, Souza, A.H., Gondo, R.G., Toledo, S.P.A., Conceicao, M.M., Prince, M., Baumann, G., Maheshwari, H.G. & Levine, M.A. (1999) Familial dwarfism due to a novel mutation in the growth hormone-releasing hormone receptor. Journal of Clinical Endocrinology and Metabolism 84, 917-923.
28. Salvatori, R., Fan, X., Phillips, J.A. III, Espigares, R., Martin de Lara, I., Freeman, K., Plotnik, L., Al-Ashwal, A. & Levine, M.A. (2001a) Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. Journal of Clinical Endocrinology and Metabolism 86, 273-279.
29. Salvatori, R., Fan, X., Phillips, J.A. III, Prince, M. & Levine, M.A. (2001b) Isolated growth hormone (GH) deficiency due to compound heterozygosity for 2 new mutations in the GH-releasing hormone receptor gene. Clinical Endocrinology 54, 681-88.
30. Salvatori, R., Thakker, R.V., Lopes, M.B., Fan, X., Eswara, J.R., Ellison, D., Lees, P., Harding, B., Yang, I. & Levine, M.A. (2001c) Absence of mutations in the growth hormone (GH)-releasing hormone receptor gene in GH-secreting pituitary adenomas. Clinical Endocrinology 543, 301-307.
31. Salvatori, R., Fan, X., Mullis, P.E., Haile, A. & Levine, M.A. (2002a) Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site. Molecular Endocrinology 16, 450-458.
32. Salvatori, R., Fan, X., Veldhuis, J. & Couch R. (2002b) Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene. European Journal of Endocrinology 147, 591-596.
33. Salvatori, R., Aguiar-Oliveira, M.H., Monte, L.V.B., Hedges, L., Santos, N.L., Pereira, R.M.C. & Phillips III, J.A. (2002c) Detection of a recurring mutation in the human GH-releasing hormone receptor gene. Clinical Endocrinology 57, 77-80.
34. Suzuki, M., Takashima, T., Kadoya, M., Konishi, H., Kameyama, T., Yoshikawa, J., Gabata, T., Arai, K., Tamura, S., Yamamoto, T. & Kawahara, K. (1990) Height of normal pituitary gland on MR imaging: age and sex differentiation. Journal of Computer Assisted Tomography 14, 36-39.
35. Takano, K., Utsonomiya, H., Ono, H., Ohfu, M. & Okazaki, M. (1999) Normal development of the pituitary gland: assessment with tridimensional MR volumetry. American Journal of Neuroradiology 20, 312-315.
36. Thomas, P.Q., Dattani, M.T., Brickman, J.M., McNay, D., Warne, G., Zacharin, M., Cameron, F., Hurst, J., Woods, K., Dunger, D., Stanhope, R., Forrest, S., Robinson, I.C. & Beddington, R.S. (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Human Molecular Genetics 10, 39-45.
37. Wagner, J.K., Eble, A., Hindmarsh, P.C. & Mullis, P.E. (1998) Prevalence of human GH-1 alteration in patients with isolated growth hormone deficiency. Pediatric Research 43, 105-110.
38. Wajnrajch, M.P., Gertner, J.M., Harbison, M.D., Chua, S.C. Jr & Leibel, R.L. (1996) Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nature Genetics 12, 88-90.
39. Zucchini, S., Ambrosetto, P., Baroncini, C. & Cacciari, E. (1996) Normal pituitary size in two patients with growth hormone gene deletion. Journal of Pediatric Endocrinology and Metabolism 9, 545-548.