IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation

Growth Hormone and IGF Research

Volumn 24, Issue 5, 2014, Pages 187-191

  Iliev, D I ^a   Kannenberg, K ^a   Weber, K ^a   Binder, G ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

IGF 1R signal transduction; IGF2 H19 hypomethylation; Silver Russell syndrome

Indexed keywords

3 (4,5 DIMETHYLTHIAZOL 2 YL) 5 (3 CARBOXYMETHOXYPHENYL) 2 (4 SULFOPHENYL) 2H TETRAZOLIUM; DNA; I KAPPA B KINASE BETA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; RNA H19; SOMATOMEDIN B; SOMATOMEDIN C; SOMATOMEDIN RECEPTOR; TETRAZOLE DERIVATIVE; UNCLASSIFIED DRUG; H19 LONG NON-CODING RNA; IGF2 PROTEIN, HUMAN; LONG UNTRANSLATED RNA;

ADOLESCENT; ARTICLE; BIOASSAY; CASE REPORT; CELL CULTURE; CELL DIFFERENTIATION; CELL GROWTH; CELL PROLIFERATION; CELL SURVIVAL; CHILD; CHILD DEVELOPMENT; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA METHYLATION; ENZYME ACTIVATION; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; FIBROBLAST; GENE; GENOME IMPRINTING; HUMAN; HUMAN CELL; IGF2 GENE; IN VITRO STUDY; MALE; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SIGNAL TRANSDUCTION; SILVER RUSSELL SYNDROME; CASE CONTROL STUDY; DRUG EFFECTS; DRUG RESISTANCE; GENETICS; METABOLISM; PATHOLOGY; SKIN;

ADOLESCENT; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; DNA METHYLATION; DRUG RESISTANCE; FEMALE; FIBROBLASTS; HUMANS; INSULIN-LIKE GROWTH FACTOR I; INSULIN-LIKE GROWTH FACTOR II; MALE; RNA, LONG NONCODING; SILVER-RUSSELL SYNDROME; SKIN;

EID: 84908054157     PISSN: 10966374     EISSN: 15322238     Source Type: Journal    
DOI: 10.1016/j.ghir.2014.06.005     Document Type: Article

References (21)

1. Silver H.K., Kiyasu W., George J., Deamer W.C. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953, 12:368-376.
2. Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc. R. Soc. Med. 1954, 47:1040-1044.
3. Kotzot D., Schmitt S., Bernasconi F., et al. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum. Mol. Genet. 1995, 4:583-587.
4. Preece M.A., Price S.M., Davies V., et al. Maternal uniparental disomy 7 in Silver-Russell syndrome. J. Med. Genet. 1997, 34:6-9.
5. Gicquel C., Rossignol S., Cabrol S., et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat. Genet. 2005, 37:1003-1007.
6. Kannenberg K., Weber K., Binder C., Urban C., Kirschner H.J., Binder G. IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome. Clin. Epigenetics 2012, 4:15-26.
7. Binder G., Seidel A.K., Weber K., et al. IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus. J. Clin. Endocrinol. Metab. 2006, 91:4709-4712.
8. Butler A.A., Yakar S., Gewolb I.H., Karas M., Okubo Y., LeRoith D. Insulin-like growth factor-I receptor signal transduction: at the interface between physiology and cell biology. Comp. Biochem. Physiol. B Biochem. Mol. Biol. 1998, 121:19-26.
9. Louvi A., Accili D., Efstratiadis A. Growth promoting interaction of IGF-II with the insulin receptor during mouse embryonic development. Dev. Biol. 1997, 189:33-48.
10. Binder G., Seidel A.K., Martin D.D., et al. The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration. J. Clin. Endocrinol. Metab. 2008, 93:1402-1407.
11. Binder G., Mavridou K., Wollmann H.A., Eggermann T., Ranke M.B. Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome. J. Pediatr. Endocrinol. Metab. 2002, 15:1167-1171.
12. Montenegro L.R., Leal A.C., Coutinho D.C., et al. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. Eur. J. Endocrinol. 2012, 166:543-550.
13. Chow J.C., Condorelli G., Smith R.J. Insulin-like growth factor-I receptor internalization regulates signaling via the Shc/mitogen-activated protein kinase pathway, but not the insulin receptor substrate-1 pathway. J. Biol. Chem. 1998, 273:4672-4680.
14. Lotton C., Rodrigue D., Elie C., et al. Akt phosphorylation in lymphocytes provides an index of in vitro insulin-like growth factor I sensitivity associated with growth hormone-induced growth. J. Clin. Endocrinol. Metab. 2008, 93:1458-1463.
15. Karin M. The beginning of the end: IκB kinase (IKK) and NF-κB activation. J. Biol. Chem. 1999, 274:27339-27342.
16. Azzi S., Rossignol S., Steunou V., et al. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell-Silver and Beckwith-Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum. Mol. Genet. 2009, 18(24):4724-4733.
17. Barltrop J.A., Owen T.C., Cory A.H., Cory J.G. 5-(3-Carboxymethoxyphenyl)-2-(4,5-dimethylthiazolyl)-3-(4-sulfophenyl)tetrazolium, inner salt (MTS) and related analogs of 3-(4,5-dimethylthiazolyl)-2,5-diphenyltetrazolium bromide (MTT) reducing to purple water-soluble formazans as cell-viability indicators. Bioorg. Med. Chem. Lett. 1991, 1:611-614.
18. Wu S., Walenkamp M.J., Lankester A., Bidlingmaier M., Wit J.M., De Luca F. Growth hormone and insulin-like growth factor-I insensitivity of fibroblasts isolated from a patient with an IκBα mutation. J. Clin. Endocrinol. Metab. 2010, 95:1220-1228.
19. Bartholdi D., Krajewska-Walasek M., Ounap K., et al. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J. Med. Genet. 2009, 46:192-197.
20. Karlberg P., Niklasson A., Ericson A., et al. A methodology for evaluating size at birth. Acta Paediatr. Scand. Suppl. 1985, 319:26-37.
21. Prader A., Largo R.H., Molinari L., Issler C. Physical growth of Swiss children from birth to 20years of age. First Zurich longitudinal study of growth and development. Helv. Paediatr. Acta Suppl. 1989, 52:1-125.