Current issues on molecular diagnosis of GH signaling defects

Endocrine Development

Volumn 24, Issue , 2013, Pages 118-127

  Feigerlova, Eva ^a   Hwa, Vivian ^a   Derr, Michael A ^a   Rosenfeld, Ron G ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; CYTOKINE; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; SOMATOMEDIN C; STAT5B PROTEIN;

ARTICLE; BIOCHEMICAL ANALYSIS; CHRONIC LUNG DISEASE; DELAYED PUBERTY; ENDOCRINE DISEASE; GENE EXPRESSION; GENE MUTATION; GROWTH DISORDER; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE INSENSITIVITY; GROWTH RETARDATION; HORMONE SYNTHESIS; HUMAN; IMMUNE DYSREGULATION; IMMUNITY; IMMUNOPATHOLOGY; INFECTION; MOLECULAR DIAGNOSIS; MUTATION; NONHUMAN; PERINATAL PERIOD; PRENATAL GROWTH; PRIORITY JOURNAL; PUBERTY; SIGNAL TRANSDUCTION;

EID: 84875434841     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000342586     Document Type: Article

References (25)

1. Savage MO, Attie KM, David A, Metherell LA, Clark AJ, Camacho-Hübner C: Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab 2006;2:395-407.
2. Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezrodnik L, Jasper H, Tepper A, Heinrich J, Rosenfeld RG: Growth-hormone insensitivity (GHI) associated with a STAT-5b mutation. N Engl J Med 2003;349:1139-1147.
3. Hwa V, Nadeau K, Wit JM, Rosenfeld RG: STAT5b deficiency: lessons from STAT5b gene mutations. Best Pract Res Clin Endocrinol Metab 2011;25: 61-75.
4. Derr MA, Fang P, Sinha SK, Ten S, Hwa V, Rosenfeld RG: A novel Y332C missense mutation in the intracellular domain of the human growth hormone receptor does not alter STAT5b signaling: redundancy of GHR intracellular tyrosines involved in STAT5b signaling. Horm Res Paediatr 2011;75: 187-199.
5. Chia D, Varco-Merth B, Rotwein P: Dispersed chromosomal Stat5b-binding elements mediate growth hormone-activated insulin-like growth factor-I gene transcription. J Biol Chem 2010;285:17636-17647.
6. Rotwein P: Mapping the growth hormone-Stat5b-IGF-I transcriptional circuit. Trends Endocrinol Metab 2012;23:186-193.
7. David A, Hwa V, Metherell LA, Netchine I, Camacho-Hubner C, Clark AJ, Rosenfeld RG, Savage MO: Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endo Rev 2011; 32:472-497.
8. Ayling RM, Ross R, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan CR, Clayton PE, Norman MR: A dominant negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 1997;16:13-14.
9. Iida K, Takahashi Y, Kaji H, Nose O, Okimura Y, Abe H, Chihara K: Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab 1998;83:531-537.
10. Derr MA, Aisenberg J, Fang P, Tenenbaum-Rakover Y, Rosenfeld RG, Hwa V: The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects. J Clin Endocrinol Metab 2011;96:1896-1904.
11. Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hubner C, Savage MO, Bidlingmaier CM, Clark AJL, Ross RJM, Webb SM: Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT5 signal transduction. J Clin Endocrinol Metab 2004;89:1259-1266.
12. Liu X, Robinson GW, Wagner KU, Garrett L, Wynshaw-Boris A, Hennighausen L: Stat5a is mandatory for adult mammary gland development and lactogenesis. Genes Dev 1997;11:179-186.
13. Udy GB, Towers RP, Snell RG, Wilkins RJ, Park SH, Ram PA, Waxman DJ, Davey HW: Requirement of STAT5b for sexual dimorphism of body growth rates and liver gene expression. Proc Natl Acad Sci USA 1997;94:7239-7244.
14. Teglund S, McKay C, Schuetz E, van Deursen JM, Stravopodis D, Wang D, Brown M, Bodner S, Grosveld G, Ihle JN: Stat5a and Stat5b proteins have essential and nonessential, or redundant, roles in cytokine responses. Cell 1998;93:841-850.
15. Davey HW, Xie T, McLachian MJ, Wilkins RJ, Waxman DJ, Grattan DR: STAT5b is required for GHinduced liver IGF-I gene expression. Endocrinology 2001;142:3836-3841.
16. Hwa V, Little B, Kofoed EM, Rosenfeld RG: Transcriptional regulation of insulin-like growth factor-I (IGF-I) by interferon-gamma (INF-γ) requires Stat-5b. J Biol Chem 2004;279:2728-2231.
17. Scaglia PA, Martnez AS, Feigerlov E, Bezrodnik L, Gaillard MI, Di Giovanni D, Ballerini MG, Jasper HG, Heinrich JJ, Fang P, Domen HM, Rosenfeld RG, Hwa V: A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease. J Clin Endocrinol Metab 2012; 97:E830-E839.
18. Chia DJ, Subbian E, Buck TM, Hwa V, Rosenfeld RG, Skach WR, Shinde U, Rotwein P: Aberrant folding of a mutant STAT5b causes growth hormone insensitivity and proteasomal dysfunction. J Biol Chem 2006;281:6552-6558.
19. Hwa V, Little B, Adiyaman P, Kofoed EM, Pratt KL, Ocal G, Berberoglu M, Rosenfeld RG: Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. J Clin Endocrinol Metab 2005;90: 4260-4266.
20. Hwa V, Camacho-Hubner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO, Rosenfeld RG: Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon13-intron 13 junction of the STAT5b gene. Horm Res 2007;68:218-224.
21. Pugliese-Pires PN, Tonelli CA, Dora JM, Silva PC, Czepielewski M, Simoni G, Arnhold IJ, Jorge AA: A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings. Eur J Endocrinol 2010;163:349-355.
22. Vidarsdottir S, Walenkamp MJE, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, White S, Breuning MH, Roelfsema F, Femke Kruithof M, van Dissel J, Janssen R, Wit JM, Romijn JA: Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. J Clin Endocrinol Metab 2006;91:3482-3485.
23. Walenkamp MJ, Vidarsdottir S, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA: Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation. Eur J Endocrinol 2007;156:155-165.
24. Bernasconi A, Marino R, Ribas A, Rossi J, Ciaccio M, Oleastro M, Ornani A, Paz R, Rivarola M, Zelazko M, Belgorosky A: Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. Pediatrics 2006;118:e1584-e1592.
25. Boyanovsky A, Lozano A, Testa G, Munoz L, Marino R, Bernasconi A, Belgorosky A, Miras M: Growth hormone insensitivity and immunodeficiency: mutation in the STAT5B gene; in 8th Joint Meet Lawson Wilkins Pediatr Endocr Soc/Eur Soc Paediatr Endocrinol, New York, September 2009, P01-P067.