Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height

Clinical Endocrinology

Volumn 77, Issue 4, 2012, Pages 564-574

  Camats, Núria ^a,b   Fernández Cancio, Mónica ^a   Carrascosa, Antonio ^a   Andaluz, Pilar ^a   Albisu, M Ángeles ^a   Clemente, María ^a   Gussinyé, Miquel ^a   Yeste, Diego ^a   Audí, Laura ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE RELEASING FACTOR;

ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GROWTH HORMONE DEFICIENCY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PREPUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

BODY HEIGHT; CHILD; DWARFISM, PITUITARY; GENETIC VARIATION; HUMAN GROWTH HORMONE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, NEUROPEPTIDE; RECEPTORS, PITUITARY HORMONE-REGULATING HORMONE;

EID: 84867297757     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2012.04410.x     Document Type: Article

References (34)

1. Audi, L., Gilabert, A., Lloveras, G. et al. (2002) Long-Term GH therapy: epidemiology and auxologic outcome. Hormone Research, 57, 113-119.
2. Audi, L., Granada, M.L. & Carrascosa, A. (1996) Growth hormone secretion assessment in the diagnosis of short stature. Journal of Pediatric Endocrinology and Metabolism, 9(Suppl 3), 313-324.
3. Audi, L., Antonia Llopis, M., Luisa Granada, M. et al. (2001) Low sensitivity of IGF-I, IGFBP-3 and urinary GH in the diagnosis of growth hormone insufficiency in slowly-growing short-statured boys. Grupo Espanol de Estudio de la Talla Baja. Medicina Clínica, 116, 6-11.
4. Phillips III, J.A. & Cogan, J.D. (1994) Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. Journal of Clinical Endocrinology and Metabolism, 78, 11-16.
5. Baumann, G. & Maheshwari, H. (1997) The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatrica. Supplement, 423, 33-38.
6. Netchine, I., Talon, P., Dastot, F. et al. (1998) Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Journal of Clinical Endocrinology and Metabolism, 83, 432-436.
7. Salvatori, R., Hayashida, C.Y., Aguiar-Oliveira, M.H. et al. (1999) Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. Journal of Clinical Endocrinology and Metabolism, 84, 917-923.
8. França, M.M., Jorge, A.A., Alatzoglou, K.S. et al. (2011) Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency. Journal of Clinical Endocrinology and Metabolism, 96, E1457-E1460.
9. Alatzoglou, K.S. & Dattani, M.T. (2010) Genetic causes and treatment of isolated growth hormone deficiency-an update. Nature Reviews. Endocrinology, 6, 562-576.
10. Siklar, Z., Berberoglu, M., Legendre, M. et al. (2010) Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation. Journal of Clinical Research in Pediatric Endocrinology, 2, 164-167.
11. Shohreh, R., Sherafat-Kazemzadeh, R., Jee, Y.H. et al. (2011) A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia. Journal of Clinical Endocrinology and Metabolism, 96, 2982-2986.
12. Godi, M., Mellone, S., Petri, A. et al. (2009) A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. Journal of Clinical Endocrinology and Metabolism, 94, 3939-3947.
13. Johansson, A., Jonasson, I. & Gyllensten, U. (2009) Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height. PLoS One, 4, e4464.
14. Carrascosa, A., Fernandez, J., Fernández, C. et al. (2008) Spanish cross-sectional 2008 growth study: II. - Height, weight and body mass index (BMI) values in 32,064 subjects (16,607 males and 15,457 females) from birth to adulthood. Anales de Pediatría, 68, 552-569.
15. Ferrandez, A., Carrascosa, A., Audi, L. et al. (2009) Longitudinal pubertal growth according to age at pubertal growth spurt onset: data from a Spanish study including 458 children (223 boys and 235 girls). Journal of Pediatric Endocrinology and Metabolism, 22, 715-726.
16. Esteban, C., Audi, L., Carrascosa, A. et al. (2007) Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population. Clinical Endocrinology, 66, 258-268.
17. Hernández, M., Sánchez, E. & Sobradillo, B. (2000) Curvas y tablas de crecimiento. In: J.C.A. Argente, R. Gracia, F. Rodriguez, eds. Tratado de Endocrinología Pediátrica y de la Adolescencia. DOYMA, Barcelona, 1441-1499.
18. Elmlinger, M.W., Kuhnel, W., Weber, M.M. et al. (2004) Reference ranges for two automated chemiluminescent assays for serum insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3). Clinical Chemistry and Laboratory Medicine, 42, 654-664.
19. Alatzoglou, K.S. & Dattani, M.T. (2012) Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). Indian Journal of Pediatrics, 79, 99-106.
20. Dennison, E.M., Syddall, H.E., Jameson, K.A. et al. (2009) A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study. Journal of Rheumatology, 36, 1520-1526.
21. Mulhall, C., Hegele, R.A., Cao, H. et al. (2005) Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone. Cancer Epidemiology, Biomarkers and Prevention, 14, 2648-2654.
22. Wagner, K., Hemminki, K., Grzybowska, E. et al. (2006) Polymorphisms in genes involved in GH1 release and their association with breast cancer risk. Carcinogenesis, 27, 1867-1875.
23. Canzian, F., McKay, J.D., Cleveland, R.J. et al. (2005) Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study. Cancer Epidemiology, Biomarkers and Prevention, 14, 2316-2325.
24. Hirschhorn, J.N., Lindgren, C.M., Daly, M.J. et al. (2001) Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. American Journal of Human Genetics, 69, 106-116.
25. Liu, Y.Z., Xiao, P., Guo, Y.F. et al. (2006) Genetic linkage of human height is confirmed to 9q22 and Xq24. Human Genetics, 119, 295-304.
26. Weedon, M.N., Lettre, G., Freathy, R.M. et al. (2007) A common variant of HMGA2 is associated with adult and childhood height in the general population. Nature Genetics, 39, 1245-1250.
27. Gudbjartsson, D.F., Walters, G.B., Thorleifsson, G. et al. (2008) Many sequence variants affecting diversity of adult human height. Nature Genetics, 40, 609-615.
28. Weedon, M.N., Lango, H., Lindgren, C.M. et al. (2008) Genome- wide association analysis identifies 20 loci that influence adult height. Nature Genetics, 40, 575-583.
29. Lettre, G., Jackson, A.U., Gieger, C. et al. (2008) Identification of ten loci associated with height highlights new biological pathways in human growth. Nature Genetics, 40, 584-591.
30. Burch, L.R., Zhou, K., Donnelly, L.A. et al. (2009) A single nucleotide polymorphism on exon-4 of the gene encoding PPARdelta is associated with reduced height in adults and children. Journal of Clinical Endocrinology and Metabolism, 94, 2587-2593.
31. Yang, T.L., Guo, Y., Zhang, L.S. et al. (2006) Runs of homozygosity identify a recessive locus 12q21.31 for human adult height. Journal of Clinical Endocrinology and Metabolism, 95, 3777-3782.
32. Lango Allen, H., Estrada, K., Lettre, G. et al. (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 467, 832-838.
33. Salvatori, R., Fan, X., Phillips, J.A. III, Prince, M. & Levine, M.A. (2001) Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene. Clinical Endocrinology (Oxford), 54, 681-687.
34. de Graaff, L.C., Argente, J., Veenma, D.C., Herrebout, M.A., Friesema, E.C., Uitterlinden, A.G., Drent, M.L., Campos-Barros, A. & Hokken-Koelega, A.C. (2009) Genetic screening of a Dutch population with isolated GH deficiency (IGHD). Clinical Endocrinology (Oxford), 70, 742-750.