Genetic disorders in the growth hormone - Insulin-like growth factor-I axis

Hormone Research

Volumn 66, Issue 5, 2006, Pages 221-230

  Walenkamp, M J E ^a   Wit, J M ^a   Kant, S G ^a   Pereira, A M ^a   Karperien, M ^a   Oostdijk, W ^a   Van Duyvenvoorde, H A ^a   Losekoot, M ^a   Breuning, M H ^a   Romijn, J A ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Genetic defect; Growth hormone; IGF I; IGF I receptor; Short stature; Small for gestational age

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR; STAT5B PROTEIN;

ALGORITHM; CLINICAL FEATURE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GH1 GENE; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE ACTION; HUMAN; LARON SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; PATIENT SELECTION; PRACTICE GUIDELINE; PRIORITY JOURNAL; SHORT STATURE; SHORT SURVEY; SIGNAL TRANSDUCTION; STAT5B GENE;

HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; LARON SYNDROME; MUTATION; RECEPTOR, IGF TYPE 1; SIGNAL TRANSDUCTION;

EID: 33750172251     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000095161     Document Type: Short Survey

References (35)

1. Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R, Rotwein PS, Parks JS, Laron Z, Wood WI: Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci USA 1989;86:8083-8087.
2. Kant SG, Wit JM, Breuning MH: Genetic analysis of short stature. Horm Res 2003;60:157-165.
3. Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T: Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 2002;87:1402-1406.
4. Benito-Sanz S, Thomas NS, Huber C, Gorbenko dB, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE: A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet 2005;77:533-544.
5. Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr, Leibel RL: Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet 1996;12:88-90.
6. Mullis PE: Genetic control of growth. Eur J Endocrinol 2005;152:11-31.
7. Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chihara K: Brief report: short stature caused by a mutant growth hormone. N Engl J Med 1996;334:432-436.
8. Lewis MD, Horan M, Millar DS, Newsway V, Easter TE, Fryklund L, Gregory JW, Norin M, Del Valle CJ, Lopez-Siguero JP, Canete R, Lopez-Canti LF, Diaz-Torrado N, Espino R, Ulied A, Scanlon MF, Procter AM, Cooper DN: A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. J Clin Endocrinol Metab 2004;89:1068-1075.
9. Horan M, Millar DS, Hedderich J, Lewis G, Newsway V, Mo N, Fryklund L, Procter AM, Krawczak M, Cooper DN: Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region. Hum Mutat 2003;21:408-423.
10. 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.
11. Woods KA, Fraser NC, Postel-Vinay MC, Savage MO, Clark AJ: A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab 1996;81:1686-1690.
12. 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.
13. Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Rosenfeld RG: Growth hormone insensitivity associated with a STAT5b mutation. N Engl J Med 2003;349:1139-1147.
14. 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.
15. Fang P, Kofoed EM, Little BM, Wang X, Ross RJM, Frank SJ, Hwa V, Rosenfeld RG: A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor. J Clin Endocrinol Metab 2006;91:1526-1534.
16. Marino R, Ciaccio M, Bernasconi A, Rossi J, Oleastro M, Omani A, Zelasko M, Rivarola MA, Belgorosky A: Identification of a novel nonsense mutation in the STAT5b gene associated with growth hormone insensitivity. Horm Res 2005;64(suppl 1):44.
17. Vidarsdottir S, Walenkamp MJ, Pereira AM, Karperien M, Van Doorn J, van Duyvenvoorde HA, White S, Breuning MH, Roelfsema F, Kruithof MF, 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;E Pub:Jun20.
18. Hwa V, Camacho-Hubner C, Little B, David A, Metherell L, Savage M, Rosenfeld RG: Growth hormone insensitivity and severe short stature in siblings due to a novel splice mutation in exon 13 of the STAT5b gen (Abstract). The Endocrine Society's 88th Annual Meeting 2006, 2006;P1-839:379.
19. Janssen R, van Wengen A, Hoeve MA, ten Dam M, van der Burg M, van Dongen J, van de Vosse E, van Tol M, Bredius R, Ottenhoff TH, Weemaes C, van Dissel JT, Lankester A: The same IκBα mutation in two related individuals leads to completely different clinical syndromes. J Exp Med 2004;200:559-568.
20. Walenkamp MJE, Lankester A, Oostdijk W, Wit JM: Partial growth hormone insensensitivity and immunodeficiency caused by a disturbance in the NF-κB signaling pathway. Horm Res 2004;62(suppl 2):103.
21. 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. N Engl J Med 1996;335:1363-1367.
22. Bonapace G, Concolino D, Formicola S, Strisciuglio P: A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J Med Genet 2003;40:913-917.
23. 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: Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab 2005;90:2855-2864.
24. Netchine I, Azzi S, Houang M, Seurin D, Daubas C, Ricort J, Legay C, Perin L, Heirich R, Godeau F, Le Bouc Y: Partial IGF-I deficiency demonstrates the critical role of IGF-I in growth and brain development. Horm Res 2006;65(suppl 4):29.
25. Domene HM, Bengolea SV, Martinez AS, Ropelato MG, Pennisi P, Scaglia P, Heinrich JJ, Jasper HG: Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. N Engl J Med 2004;350:570-577.
26. Hwa V, Haeusler G, Pratt KL, Little BM, Frisch H, Koller D, Rosenfeld RG: Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. J Clin Endocrinol Metab 2006;91:1826-1831.
27. Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi SI, Petry CJ, Saukkonen T, Stanhope R, Dunger DB: 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 2003;88:5981-5988.
28. 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: IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med 2003;349:2211-2222.
29. Kawashima Y, Kanzaki S, Yang F, Kinoshita T, Hanaki K, Nagaishi Ji, Ohtsuka Y, Hisatome I, Ninomoya H, Nanba E, Fukushima T, Takahashi SI: Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. J Clin Endocrinol Metab 2005;90:4679-4687.
30. 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 IGF-I receptor. J Clin Endocrinol Metab 2006;91:3062-3070.
31. Tiulpakov A, Rubtsov P, Sverdlova P, Peterkova V, LeRoith D: A familial case of pre- and postnatal growth failure associated with a novel heterozygous missense mutation affecting the N-terminal fibronectin type III domain of IGF-IR. Horm Res 2005;64(suppl1):32.
32. Kawashima Y, Yang F, Miura M, Kinoshita T, Nagaishi JI, Hanaki K, Kanzaki S: A family with short stature born intrauterine growth retardation bearing a new missense mutation at α subunit of IGF-I receptor (R431L) (Abstract). The Endocrine Society's 88th Annual Meeting 2006, 2006;P2-117:426.
33. Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA: Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am J Hum Genet 2000;67:1411-1421.
34. Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop SL, Troger J, Knoblauch H, Kunze J, Seidel J, Rappold GA: Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome. Eur J Hum Genet 2000;8:54-62.
35. Richter-Unruh A, Knauer-Fischer S, Kaspers S, Albrecht B, Gillessen-Kaesbach G, Hauffa BP: Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment. Eur J Pediatr 2004;163:251-256.