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

Volumn 94, Issue 12, 2009, Pages 4717-4727

  Ester, Wietske A ^a   Van Duyvenvoorde, Hermine A ^c   De Wit, Caroline C ^c   Broekman, Alexander J ^c   Ruivenkamp, Claudia A L ^c   Govaerts, Lutgarde C P ^b   Wit, Jan M ^c   Hokken Koelega, Anita C S ^a   Losekoot, Monique ^c  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALS PROTEIN; GH1 PROTEIN; GROWTH FACTOR RECEPTOR BOUND PROTEIN 10; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; METHYLPHENIDATE; NSD1 PROTEIN; PROTEIN DERIVATIVE; PROTEIN KINASE B; SHOX PROTEIN; SOMATOMEDIN B; SOMATOMEDIN BINDING PROTEIN 1; SOMATOMEDIN BINDING PROTEIN 2; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN BINDING PROTEIN 4; SOMATOMEDIN BINDING PROTEIN 5; SOMATOMEDIN BINDING PROTEIN 6; SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR; STAT5B PROTEIN; SUPPRESSOR OF CYTOKINE SIGNALING 2; SUPPRESSOR OF CYTOKINE SIGNALING 3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; AUTOPHOSPHORYLATION; BODY HEIGHT; CELL CULTURE; CHILD; CHROMOSOME 15Q; CLINICAL TRIAL; CONTROLLED STUDY; DNA FLANKING REGION; DNA MICROARRAY; DNA SEQUENCE; ENZYME ACTIVATION; EXON; FEMALE; GENE DELETION; GENE LOCATION; GENE NUMBER; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GROWTH HORMONE DEFICIENCY; HAPLOTYPE; HETEROZYGOSITY; HORMONAL THERAPY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN PHOSPHORYLATION; PROVOCATION TEST; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; SMALL FOR DATE INFANT; TELOMERE;

EID: 73249116872     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-1502     Document Type: Article

References (45)

1. Hokken-Koelega AC, De Ridder MA, Lemmen RJ, Den Hartog H, De Muinck Keizer-Schrama SM, Drop SL 1995 Children born small for gestational age: do they catch up? Pediatr Res 38:267-271
2. Arends NJ, Boonstra VH, Duivenvoorden HJ, Hofman PL, Cutfield WS, Hokken-Koelega AC 2005 Reduced insulin sensitivity and the presence of cardiovascular risk factors in short prepubertal children born small for gestational age (SGA). Clin Endocrinol (Oxf) 62:44-50
3. Arends NJ, Boonstra VH, Hokken-Koelega AC 2004 Head circumference and body proportions before and during growth hormone treatment in short children who were born small for gestational age. Pediatrics 114:683-690
4. Leger J, Garel C, Fjellestad-Paulsen A, Hassan M, Czernichow P 1998 Human growth hormone treatment of short-stature children born small for gestational age: effect on muscle and adipose tissue mass during a 3-year treatment period and after 1 year's withdrawal. J Clin Endocrinol Metab 83:3512-3516
5. Boonstra VH, Arends NJ, Stijnen T, Blum WF, Akkerman O, Hokken-Koelega AC 2006 Food intake of children with short stature born small for gestational age before and during a randomized GH trial. Horm Res 65:23-30
6. Lundgren EM, Cnattingius S, Jonsson B, Tuvemo T 2001 Intellectual and psychological performance in males born small for gestational age with and without catch-up growth. Pediatr Res 50:91-96
7. Brandt I, Sticker EJ, Lentze MJ 2003 Catch-up growth of head circumference of very low birth weight, small for gestational age preterm infants and mental development to adulthood. J Pediatr 142:463-468
8. Gale CR, O'Callaghan FJ, Godfrey KM, Law CM, Martyn CN 2004 Critical periods of brain growth and cognitive function in children. Brain 127:321-329
9. van Pareren YK, Duivenvoorden HJ, Slijper FS, Koot HM, Hokken-Koelega AC 2004 Intelligence and psychosocial functioning during long-term growth hormone therapy in children born small for gestational age. J Clin Endocrinol Metab 89:5295-5302
10. Woods KA, Camacho-Hubner C, Savage MO, Clark AJ 1996 Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 335:1363-1367
11. Bonapace G, Concolino D, Formicola S, Strisciuglio P 2003 A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J Med Genet 40:913-917
12. Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM 2005 Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab 90:2855-2864
13. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD 2003 IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med 349:2211-2222
14. Bhakta KY, Marlin SJ, Shen JJ, Fernandes CJ 2005 Terminal deletion of chromosome 15q26.1: case report and brief literature review. J Perinatol 25:429-432
15. Biggio Jr JR, Descartes MD, Carroll AJ, Holt RL 2004 Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?AmJMed Genet A 126A:183-185
16. Inagaki K, Tiulpakov A, Rubtsov P, Sverdlova P, Peterkova V, Yakar S, Terekhov S, LeRoith D 2007Afamilial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization. J Clin Endocrinol Metab 92:1542-1548
17. Kawashima Y, Kanzaki S, Yang F, Kinoshita T, Hanaki K, Nagaishi J, Ohtsuka Y, Hisatome I, Ninomoya H, Nanba E, Fukushima T, Takahashi S 2005 Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. J Clin Endocrinol Metab 90:4679-4687
18. Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB 2003 Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene. J Clin Endocrinol Metab 88:5981-5988
19. Pinson L, Perrin A, Plouzennec C, Parent P, Metz C, Collet M, Le Bris MJ, Douet-Guilbert N, Morel F, De Braekeleer M 2005 Detection of an unexpected subtelomeric 15q26.2-qter deletion in a little girl: clinical and cytogenetic studies. Am J Med Genet A 138:160-165
20. Poot M, Eleveld MJ, van't Slot R, van Genderen MM, Verrijn Stuart AA, Hochstenbach R, Beemer FA 2007 Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-qter. Eur J Med Genet 50:432-440
21. Roback EW, Barakat AJ, Dev VG, Mbikay M, Chretien M, Butler MG 1991 An infant with deletion of the distal long arm of chromosome 15 (q26.1- qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet 38:74-79
22. Rujirabanjerd S, Suwannarat W, Sripo T, Dissaneevate P, Permsirivanich W, Limprasert P 2007 De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation. Am J Med Genet A 143:271-276
23. Siebler T, Lopaczynski W, Terry CL, Casella SJ, Munson P, De Leon DD, Phang L, Blakemore KJ, McEvoy RC, Kelley RI, et al. 1995 Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15. J Clin Endocrinol Metab 80:3447-3457
24. Tonnies H, Schulze I, Hennies H, Neumann LM, Keitzer R, Neitzel H 2001 De novo terminal deletion of chromosome 15q26.1 characterized by comparative genomic hybridization and FISH with locus-specific probes. J Med Genet 38:617-621
25. 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, Karperien M, Wit JM 2008 Successful long-term growthhormonetherapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2-qter deletion detected by multiplex ligation probe amplification. J Clin Endocrinol Metab 93:2421-2425
26. Walenkamp MJ, van der Kamp HJ, Pereira AM, Kant SG, van Duyvenvoorde HA, Kruithof MF, Breuning MH, Romijn JA, Karperien M, Wit JM 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. J Clin Endocrinol Metab 91:3062-3070
27. Sas TC, Gerver WJ, De Bruin R, Mulder PG, Cole TJ, De Waal W, Hokken-Koelega AC 2000 Body proportions during 6 years of GH treatment in children with short stature born small for gestational age participating in a randomised, double-blind, dose-response trial. Clin Endocrinol (Oxf) 53:675-681
28. Usher R, McLean F 1969 Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation. J Pediatr 74:901-910
29. Fredriks AM, van Buuren S, Burgmeijer RJ, Meulmeester JF, Beuker RJ, Brugman E, Roede MJ, Verloove-Vanhorick SP, Wit JM 2000 Continuing positive secular growth change in The Netherlands 1955-1997. Pediatr Res 47:316-323
30. Fredriks AM, van Buuren S, Wit JM, Verloove-Vanhorick SP 2000 Body index measurements in 1996-7 compared with 1980. Arch Dis Child 82:107-112
31. Gerver WJ, de Bruin R 2001 Paediatric morphometrics, a reference manual. 2nd ed. Maastricht: University Press
32. Hokken-Koelega AC, Hackeng WH, Stijnen T, Wit JM, de Muinck Keizer-Schrama SM, Drop SL 1990 Twenty-four-hour plasma growth hormone (GH) profiles, urinary GH excretion, and plasma insulin-like growth factor-I and -II levels in prepubertal children with chronic renal insufficiency and severe growth retardation. J Clin Endocrinol Metab 71:688-695
33. Rikken B, van Doorn J, Ringeling A, Van den Brande JL, Massa G, Wit JM 1998 Plasma levels of insulin-like growth factor (IGF)-I, IGF-II and IGF-binding protein-3 in the evaluation of childhood growth hormone deficiency. Horm Res 50:166-176
34. Greulich WW, Pyle SI 1959 Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford, CA: Stanford University Press
35. Miller SA, Dykes DD, Polesky HF 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
36. White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT 2004 Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 24:86-92
37. Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, Hangaishi A, Kurokawa M, Chiba S, Bailey DK, Kennedy GC, Ogawa S 2005 A robust algorithm for copy number detection using high-density oligonucleotide single-nucleotide polymorphism genotyping arrays. Cancer Res 65:6071-6079
38. Kamp GA, Ouwens DM, Hoogerbrugge CM, Zwinderman AH, Maassen JA, Wit JM 2002 Skin fibroblasts of children with idiopathic short stature show an increased mitogenic response to IGF-I and secrete more IGFBP-3. Clin Endocrinol (Oxf) 56:439-447
39. aras-GTP without detectable interaction of insulin receptor substrate 1 (IRS1) with Grb2. Evidence for IRS1-independent p21aras-GTP formation. J Biol Chem 269:33116-33122
40. Sas T, de Waal W, Mulder P, Houdijk M, Jansen M, Reeser M, Hokken-Koelega A 1999 Growth hormone treatment in children with short stature born small for gestational age: 5-year results of a randomized, double-blind, dose-response trial. J Clin Endocrinol Metab 84:3064-3070
41. van der Eerden BC, Karperien M, Wit JM 2003 Systemic and local regulation of the growth plate. Endocr Rev 24:782-801
42. Beck KD, Powell-Braxton L, Widmer HR, Valverde J, Hefti F 1995 Igf1 gene disruption results in reduced brain size, CNS hypomyelination, and loss of hippocampal granule and striatal parvalbumincontaining neurons. Neuron 14:717-730
43. Hawkins RD, Bashiardes S, Powder KE, Sajan SA, Bhonagiri V, Alvarado DM, Speck J, Warchol ME, Lovett M 2007 Large-scale gene expression profiles of regenerating inner ear sensory epithelia. PLoS ONE 2:e525
44. Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfaffle R, Kratzsch J, Keller E, Kiess W 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. J Clin Endocrinol Metab 91:2264-2271
45. van der Kamp HJ, Walenkamp MJE, Wit JM 2007 Growth hormone treatment is efficacious in short stature due to a hetrozygous missense mutation in the tyrosine kinase domain of the IGF-I receptor. Hormone Res 68(Suppl 1):170