Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

European Journal of Endocrinology

Volumn 168, Issue 1, 2013, Pages

  Gannagé Yared, Marie Hélène ^a   Klammt, Jürgen ^b   Chouery, Eliane ^c   Corbani, Sandra ^c   Meǵarbané, Hala ^d   Ghoch, Joelle Abou ^c   Choucair, Nancy ^c   Pfaf̈fle, Roland ^b   Mégarbáne, André ^c,e  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d UNIVERSITY OF BALAMAND   (Lebanon)

^e Institute Jérôme Lejeune   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; INSULIN; SOMATOMEDIN C RECEPTOR; TRIACYLGLYCEROL;

ACANTHOSIS NIGRICANS; ADOLESCENT; ARTICLE; AUTOPHOSPHORYLATION; CASE REPORT; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DISEASE SEVERITY; DOWN REGULATION; EXON; FACE DYSMORPHIA; FEMALE; FIBROBLAST; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IGF1R GENE; IMMUNOBLOTTING; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; INTRON; NUCLEOTIDE SEQUENCE; OBESITY; ORAL GLUCOSE TOLERANCE TEST; PARENT; PERINATAL PERIOD; PERSONAL APPEARANCE; PHOSPHATE BLOOD LEVEL; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCOLIOSIS; SHORT STATURE; TRIACYLGLYCEROL BLOOD LEVEL; VITAMIN BLOOD LEVEL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD, PRESCHOOL; FAILURE TO THRIVE; FEMALE; FETAL GROWTH RETARDATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INSULIN RESISTANCE; INTELLECTUAL DISABILITY; MODELS, MOLECULAR; RECEPTOR, IGF TYPE 1;

EID: 84871984916     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0701     Document Type: Article

References (33)

1. Clayton PE, Cianfarani S, Czernichow P, Johannsson G, Rapaport R & Rogol A. 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 2007 92 804-810. (doi:10.1210/jc.2006-2017)
2. Saenger P, Czernichow P, Hughes I & Reiter EO. Small for gestational age: short stature and beyond. Endocrine Reviews 2007 28 219-251. (doi:10.1210/er.2006-0039)
3. Woods KA, Camacho-Hubner C, Savage MO & Clark AJ. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. New England Journal of Medicine 1996 335 1363-1367. (doi:10.1056/NEJM199610313351805)
4. Bonapace G, Concolino D, Formicola S & Strisciuglio P. A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. Journal of Medical Genetics 2003 40 913-917. (doi:10.1136/jmg.40.12.913)
5. Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA et al. Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. Journal of Clinical Endocrinology and Metabolism 2005 90 2855-2864. (doi:10.1210/jc.2004-1254)
6. Netchine I, Azzi S, Houang M, Seurin D, Perin L, Ricort JM, Daubas C, Legay C, Mester J, Herich R et al. Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development. Journal of Clinical Endocrinology and Metabolism 2009 94 3913-3921. (doi:10.1210/jc.2009-0452)
7. Klammt J, Kiess W & Pfaffle R. IGF1R mutations as cause of SGA. Best Practice & Research. Clinical Endocrinology & Metabolism 2011 25 191-206. (doi:10.1016/j.beem.2010.09.012)
8. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D et al. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. New England Journal of Medicine 2003 349 2211-2222. (doi:10.1056/NEJMoa010107)
9. Walenkamp MJ, de Muinck Keizer-Schrama SM, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT et al. Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulinlike growth factor-1 receptor due to a terminal 15q26.2/qter deletion detected by multiplex ligation probe amplification. Journal of Clinical Endocrinology and Metabolism 2008 93 2421-2425. (doi:10.1210/jc.2007-1789)
10. Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC & Losekoot M. 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 2009 94 4717-4727. (doi:10.1210/jc.2008- 1502)
11. Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfäffle R, Kratzsch J, Keller E & Kiess W. Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor 1 receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R. Journal of Clinical Endocrinology and Metabolism 2006 91 2264-2271. (doi:10.1210/jc.2005-2146)
12. Fang P, Schwartz ID, Johnson BD, Derr MA, Roberts CT Jr, Hwa V & Rosenfeld RG. Familial short stature caused by haploinsufficiency of the insulin-like growth factor 1 receptor due to nonsensemediated messenger ribonucleic acid decay. Journal of Clinical Endocrinology and Metabolism 2009 94 1740-1747. (doi:10.1210/jc.2008-1903)
13. Kawashima Y, Kanzaki S, Yang F, Kinoshita T, Hanaki K, Nagaishi J, Ohtsuka Y, Hisatome I, Ninomoya H, Nanba E et al. 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 2005 90 4679-4687. (doi:10.1210/jc.2004-1947)
14. Walenkamp MJ, van der Kamp HJ, Pereira AM, Kant SG, van Duyvenvoorde HA, Kruithof MF, Breuning MH, Romijn JA, Karperien M & Wit JM. 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 2006 91 3062-3070. (doi:10.1210/jc.2005-1597)
15. Inagaki K, Tiulpakov A, Rubtsov P, Sverdlova P, Peterkova V, Yakar S, Terekhov S & LeRoith D. A familial insulin-like growth factor-1 receptor mutant leads to short stature: clinical and biochemical characterization. Journal of Clinical Endocrinology and Metabolism 2007 92 1542-1548. (doi:10.1210/jc.2006-2354)
16. Wallborn T, Wüller S, Klammt J, Kruis T, Kratzsch J, Schmidt G, Schlicke M, Müller E, van de Leur HSKiess W et al. 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 2010 95 2316-2324. (doi:10.1210/jc.2009-2404)
17. Kruis T, Klammt J, Galli-Tsinopoulou A, Wallborn T, Schlicke M, Müller E, Kratzsch J, Körner A, Odeh R, Kiess W et al. 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 2010 95 1137-1142. (doi:10.1210/jc.2009- 1433)
18. Choi JH, Kang M, Kim GH, Hong M, Jin HY, Lee BH, Park JY, Lee SM, Seo EJ & Yoo HW. Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2/qter deletion in patients with intrauterine growth retardation and postnatal catch-up. Journal of Clinical Endocrinology and Metabolism 2011 96 E130-E134. (doi:10.1210/jc.2010-1789)
19. Mohn A, Marcovecchio ML, de Giorgis T, Pfaeffle R, Chiarelli F & Kiess W. An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree. Hormone Research in Paediatrics 2011 76 136-143. (doi:10.1159/000324957)
20. Fang P, Cho YH, Derr MA, Rosenfeld RG, Hwa V & Cowell CT. Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R). Journal of Clinical Endocrinology and Metabolism 2012 97 E243-E247. (doi:10.1210/jc.2011-2142)
21. Kawashima Y, Higaki K, Fukushima T, Hakuno F, Nagaishi JI, Hanaki K, Nanba E, Takahashi SI & Kanzaki S. Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation. Clinical Endocrinology 2012 77 246-254. (doi:10.1111/j.1365-2265.2012.04357.x)
22. Poot M, Eleveld MJ, van 't SR, van Genderen MM, Verrijn Stuart AA, Hochstenbach R & Beemer FA. Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2/qter. European Journal of Medical Genetics 2007 50 432-440. (doi:10.1016/j.ejmg.2007.08.003)
23. Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF & Turner RC. Homeostasis model assessment: insulin resistance and b-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985 28 412-419. (doi:10.1007/BF00280883)
24. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A & Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Research 1989 17 8390. (doi:10.1093/nar/17.20.8390)
25. Garrett TP, McKern NM, Lou M, Frenkel MJ, Bentley JD, Lovrecz GO, Elleman TC, Cosgrove LJ & Ward CW. Crystal structure of the first three domains of the type-1 insulin-like growth factor receptor. Nature 1998 394 395-399. (doi:10.1038/28668)
26. Greulich WW & Pyle SI. Radiographic Atlas of Skeletal Development of the Hand and Wrist, 2nd edn. Stanford, CA: Stanford University Press, 1959.
27. Nakae J, Kido Y & Accili D. Distinct and overlapping functions of insulin and IGF-I receptors. Endocrine Reviews 2001 22 818-835. (doi:10.1210/er.22.6.818)
28. Belfiore A, Frasca F, Pandini G, Sciacca L & Vigneri R. Insulin receptor isoforms and insulin receptor/insulin-like growth factor receptor hybrids in physiology and disease. Endocrine Reviews 2009 30 586-623. (doi:10.1210/er.2008-0047)
29. Fernandez AM, Kim JK, Yakar S, Dupont J, Hernandez-Sanchez C, Castle AL, Filmore J, Shulman GI & Le Roith D. Functional inactivation of the IGF-I and insulin receptors in skeletal muscle causes type 2 diabetes. Genes and Development 2001 15 1926-1934. (doi:10.1101/gad.908001)
30. Kulkarni RN, Holzenberger M, Shih DQ, Ozcan U, Stoffel M, Magnuson MA & Kahn CR. b -Cell-specific deletion of the Igf1 receptor leads to hyperinsulinemia and glucose intolerance but does not alter b-cell mass. Nature Genetics 2002 31 111-115.
31. Shah R, Licata A, Oyesiku NM & Ioachimescu AG. Acromegaly as a cause of 1,25-dihydroxyvitamin D-dependent hypercalcemia: case reports and review of the literature. Pituitary 2012 In press.
32. Whittaker J, Groth AV, Mynarcik DC, Pluzek L, Gadsboll VL & Whittaker LJ. Alanine scanning mutagenesis of a type 1 insulin-like growth factor receptor ligand binding site. Journal of Biological Chemistry 2001 276 43980-43986. (doi:10.1074/jbc.M102863200)
33. Liu JP, Baker J, Perkins AS, Robertson EJ & Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 1993 75 59-72.