GH-releasing hormone receptor gene: A novel splice-disrupting mutation and study of founder effects

Hormone Research in Paediatrics

Volumn 78, Issue 3, 2012, Pages 165-172

  Marui, Suemi ^a,b   Trarbach, Ericka B ^b   Boguszewski, Margaret C S ^c   Frana, Marcela M ^a   Jorge, Alexander A L ^a   Inoue, Hiroshi ^e   Nishi, Mirian Y ^a   De Lacerda Filho, Luiz ^c   Aguiar Oliveira, Manuel H ^d   Mendonca, Berenice B ^a   Arnhold, Ivo J P ^a  

^a Unidade de Endocrinologia Do Desenvolvimento   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^d FEDERAL UNIVERSITY OF SERGIPE   (Brazil)

^e UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

GHRHR mutations; Growth; Isolated GH deficiency; Mutations; Splicing mutations

Indexed keywords

ADOLESCENT; BRAZIL; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DWARFISM, PITUITARY; FEMALE; FOUNDER EFFECT; HUMANS; MALE; MUTATION; RECEPTORS, NEUROPEPTIDE; RECEPTORS, PITUITARY HORMONE-REGULATING HORMONE; RNA SPLICE SITES; RNA SPLICING;

EID: 85027958818     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000342760     Document Type: Article

References (28)

1. Alatzoglou KS, Dattani MT: Genetic causes and treatment of isolated growth hormone deficiency-an update. Nat Rev Endocrinol 2010; 6: 562-576.
2. Rona RJ, Tanner JM: Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Child 1977; 52: 197-208.
3. Mayo KE: Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone. Mol Endocrinol 1992; 6: 1734-1744.
4. Vamvakopoulos NC, Kunz J, Olberding U, Scherer SW, Sioutopoulou TO, Schneider V, Durkin AS, Nierman WC: Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene. Genomics 1994; 20: 338-340.
5. Wajnrajch MP, Gertner JM, Harbison MD, Chua SC, Leibel RL: Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet 1996; 12: 88-90.
6. Wajnrajch MP, Gertner JM, Sokoloff AS, Ten I, Harbison MD, Netchine I, Maheshwari HG, Goldstein DB, Amselem S, Baumann G, Leibel RL: Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the Indian subcontinent with the identical mutation in the GHRH receptor. Am J Med Genet A 2003; 120A:77-83.
7. Salvatori R, Hayashida CY, Aguiar-Oliveira MH, Phillips JA, Souza AH, Gondo RG, Toledo SP, Conceicäo MM, Prince M, Maheshwari HG, Baumann G, Levine MA: Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. J Clin Endocrinol Metab 1999; 84: 917-923.
8. Osorio MG, Marui S, Jorge AA, Latronico AC, Lo LS, Leite CC, Estefan V, Mendonca BB, Arnhold IJ: Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes. J Clin Endocrinol Metab 2002; 87: 5076-5084.
9. Alba M, Hall CM, Whatmore AJ, Clayton PE, Price DA, Salvatori R: Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene. Clin Endocrinol (Oxf) 2004; 60: 470-475.
10. França MM, Jorge AA, Alatzoglou KS, Carvalho LR, Mendonca BB, Audi L, Carrascosa A, Dattani MT, Arnhold IJ: Absence of GHreleasing hormone (GHRH) mutations in selected patients with isolated GH deficiency. J Clin Endocrinol Metab 2011; 96:E1457-E1460.
11. Argyropoulou M, Perignon F, Brunelle F, Brauner R, Rappaport R: Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children. Pediatr Radiol 1991; 21: 247-249.
12. Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K, Consortium JGG: Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature. Clin Endocrinol (Oxf) 2011; 74: 223-233.
13. Carakushansky M, Whatmore AJ, Clayton PE, Shalet SM, Gleeson HK, Price DA, Levine MA, Salvatori R: A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. Eur J Endocrinol 2003; 148: 25-30.
14. Salvatori R, Fan X, Mullis PE, Haile A, Levine MA: Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site. Mol Endocrinol 2002; 16: 450-458.
15. Godi M, Mellone S, Petri A, Arrigo T, Bardelli C, Corrado L, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M: A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. J Clin Endocrinol Metab 2009; 94: 3939-3947.
16. Hilal L, Hajaji Y, Vie-Luton MP, Ajaltouni Z, Benazzouz B, Chana M, Chraïbi A, Kadiri A, Amselem S, Sobrier ML: Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene. Mol Med 2008; 14: 286-292.
17. Salvatori R, Fan X, Veldhuis JD, Couch R: Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GHreleasing hormone receptor gene. Eur J Endocrinol 2002; 147: 591-596.
18. Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S: Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. J Clin Endocrinol Metab 1998; 83: 432-436.
19. Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT: Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. J Clin Endocrinol Metab 2009; 94: 3191-3199.
20. Baumann G, Maheshwari H: The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr Suppl 1997; 423: 33-38.
21. S?klar Z, Berbero?lu M, Legendre M, Amselem S, Evliyao?lu O, Hac?hamdio?lu B, Erdeve SS, Oçal G: 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. J Clin Res Pediatr Endocrinol 2010; 2: 164-167.
22. Shohreh R, Sherafat-Kazemzadeh R, Jee YH, Blitz A, Salvatori R: A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia. J Clin Endocrinol Metab 2011; 96: 2982-2986.
23. Salvatori R, Fan X, Phillips JA, Prince M, Levine MA: Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene. Clin Endocrinol (Oxf) 2001; 54: 681-687.
24. Salvatori R, Fan X, Phillips JA, Espigares-Martin R, Martin De Lara I, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA: Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. J Clin Endocrinol Metab 2001; 86: 273-279.
25. Roelfsema F, Biermasz NR, Veldman RG, Veldhuis JD, Frölich M, Stokvis-Brantsma WH, Wit JM: Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: evidence for a role for non-GHRH inputs into the generation of GH pulses. J Clin Endocrinol Metab 2001; 86: 2459-2464.
26. Wang Q, Diao Y, Xu Z, Li X, Luo XP, Xu H, Ouyang P, Liu M, Hu Z, Wang QK, Liu JY: Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism. Mol Cell Endocrinol 2009; 313: 50-56.
27. Haskin O, Lazar L, Jaber L, Salvatori R, Alba M, Kornreich L, Phillip M, Gat-Yablonski G: A new mutation in the growth hormone-releasing hormone receptor gene in two Israeli Arab families. J Endocrinol Invest 2006; 29: 122-130.
28. Horikawa R: Isolated GH deficiency due to inactivating mutation of GHRH receptor (in Japanese). Nihon Rinsho 2002; 60: 297-305.