Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: In vitro characterization of a novel mutation (p.Arg511Trp)

Clinical Endocrinology

Volumn 78, Issue 4, 2013, Pages 558-563

  Leal, Andrea C ^a   Montenegro, Luciana R ^a   Saito, Renata F ^a   Ribeiro, Tamaya C ^a   Coutinho, Debora C ^a   Mendonca, Berenice B ^a   Arnhold, Ivo J P ^a   Jorge, Alexander A L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; RECOMBINANT SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR;

ARTICLE; CATCH UP GROWTH; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME PHOSPHORYLATION; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; GENE DELETION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INSULIN SENSITIVITY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SMALL FOR DATE INFANT;

AMINO ACID SUBSTITUTION; ARGININE; CELLS, CULTURED; CHILD; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GROWTH DISORDERS; HUMANS; INFANT, NEWBORN; INFANT, SMALL FOR GESTATIONAL AGE; MUTATION, MISSENSE; PEDIGREE; RECEPTOR, IGF TYPE 1; TRYPTOPHAN;

EID: 84875141087     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12048     Document Type: Article

References (22)

1. Clayton, P.E., Cianfarani, S., Czernichow, P., et al,. (2007) Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. Journal of Clinical Endocrinology and Metabolism, 92, 804-810.
2. DeChiara, T.M., Efstratiadis, A., &, Robertson, E.J., (1990) A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature, 345, 78-80.
3. Woods, K.A., Camacho-Hubner, C., Savage, M.O., et al,. (1996) Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. New England Journal of Medicine, 335, 1363-1367.
4. Abuzzahab, M.J., Schneider, A., Goddard, A., et al,. (2003) IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. New England Journal of Medicine, 349, 2211-2222.
5. Montenegro, L.R., Leal, A.C., Coutinho, D.C., et al,. (2012) 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. European Journal of Endocrinology, 166, 543-550.
6. Fang, P., Cho, Y.H., Derr, M.A., et al,. (2012) Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R). Journal of Clinical Endocrinology and Metabolism, 97, E243-E247.
7. Fang, P., Schwartz, I.D., Johnson, B.D., et al,. (2009) Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay. Journal of Clinical Endocrinology and Metabolism, 94, 1740-1747.
8. Inagaki, K., Tiulpakov, A., Rubtsov, P., et al,. (2007) A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization. Journal of Clinical Endocrinology and Metabolism, 92, 1542-1548.
9. Kawashima, Y., Higaki, K., Fukushima, T., et al,. (2012) Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation. Clinical Endocrinology (Oxford), 77, 246-254.
10. Kawashima, Y., Kanzaki, S., Yang, F., et al,. (2005) Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. Journal of Clinical Endocrinology and Metabolism, 90, 4679-4687.
11. Kruis, T., Klammt, J., Galli-Tsinopoulou, A., et al,. (2010) Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation. Journal of Clinical Endocrinology and Metabolism, 95, 1137-1142.
12. Mohn, A., Marcovecchio, M.L., de Giorgis, T., et al,. (2011) An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree. Hormone Research Paediatrics, 76, 136-143.
13. Raile, K., Klammt, J., Schneider, A., et al,. (2006) Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R. Journal of Clinical Endocrinology and Metabolism, 91, 2264-2271.
14. Walenkamp, M.J., van der Kamp, H.J., Pereira, A.M., et al,. (2006) A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor. Journal of Clinical Endocrinology and Metabolism, 91, 3062-3070.
15. Wallborn, T., Wuller, S., Klammt, J., et al,. (2010) A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation. Journal of Clinical Endocrinology and Metabolism, 95, 2316-2324.
16. Leal, A.C., Canton, A.P., Montenegro, L.R., et al,. (2011) [Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation]. Arquivos Brasileiros de Endocrinologia e Metabologia, 55, 541-549.
17. Ester, W.A., van Duyvenvoorde, H.A., de Wit, C.C., et al,. (2009) Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype. Journal of Clinical Endocrinology and Metabolism, 94, 4717-4727.
18. Tanner, J.M., Whitehouse, R.H., &, Takaishi, M., (1966) Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I. Archives of Disease in Childhood, 41, 454-471.
19. Coutinho, D.C., Coletta, R.R., Costa, E.M., et al,. (2007) Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment. Journal of Clinical Endocrinology and Metabolism, 92, 4889-4892.
20. Tada, H., Shiho, O., Kuroshima, K., et al,. (1986) An improved colorimetric assay for interleukin 2. Journal of Immunological Methods, 93, 157-165.
21. Schwarz, J.M., Rodelsperger, C., Schuelke, M., et al,. (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nature Methods, 7, 575-576.
22. Adams, T.E., Epa, V.C., Garrett, T.P., et al,. (2000) Structure and function of the type 1 insulin-like growth factor receptor. Cellular and Molecular Life Sciences, 57, 1050-1093.