De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1480-1486

  Wangensteen, Teresia ^a   Retterstøl, Lars ^a   Rødningen, Olaug K ^a   Hjelmesæth, Jøran ^b   Aukrust, Pål ^c,d   Halvorsen, Bente ^c  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b VESTFOLD HOSPITAL TRUST   (Norway)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

19p13.2; Insulin receptor; Microdeletion; Obesity; Resistin

Indexed keywords

ADIPONECTIN; INSULIN RECEPTOR; RESISTIN; TUMOR NECROSIS FACTOR ALPHA; ADIPOCYTOKINE; GLUCOSE BLOOD LEVEL;

ADULT; ARTICLE; BODY MASS; CASE REPORT; CHROMOSOME 19P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; DISEASE ASSOCIATION; DYSLEXIA; FEMALE; GASTRIC BANDING; GENE DELETION; GENE EXPRESSION; GENETIC SCREENING; HAPLOINSUFFICIENCY; HIRSUTISM; HUMAN; INSULIN RECEPTOR GENE; LEARNING DISORDER; MOTOR DYSFUNCTION; OBESITY; ORAL GLUCOSE TOLERANCE TEST; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RESISTIN GENE; SPEECH DELAY; STOMACH BYPASS; BLOOD; CHROMOSOME 19; COMPARATIVE GENOMIC HYBRIDIZATION; GENETICS; GLUCOSE BLOOD LEVEL; LIPID METABOLISM; MORBID OBESITY;

ADIPOKINES; ADIPONECTIN; ADULT; BLOOD GLUCOSE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HAPLOINSUFFICIENCY; HUMANS; LEARNING DISORDERS; LIPID METABOLISM; OBESITY, MORBID; RECEPTOR, INSULIN; RESISTIN; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84878227785     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35927     Document Type: Article

References (17)

1. Beckers S, de Freitas F, Zegers D, Verrijken A, Peeters AV, Peiffer F, Verhulst SL, Massa G, Mertens IL, Desager KN, Van Gaal LF, Van Hul W. 2011. Identification and functional characterization of a missense mutation in resistin in two patients with severe obesity and insulin resistance. Eur J Endocrinol 164:927-936.
2. Blüher M, Bashan N, Shai I, Harman-Boehm I, Tarnovscki T, Avinaoch E, Stumvoll M, Dietrich A, Klöting N, Rudich A. 2009. Activated Ask1-MKK4-p38MAPK/JNK stress signaling pathway in human omental fat tissue may link macrophage infiltration to whole-body Insulin sensitivity. J Clin Endocrinol Metab 94:2507-2515.
3. Brochu-Gaudreau K, Rehfeldt C, Blouin R, Bordignon V, Murphy BD, Palin MF. 2009. Adiponectin action from head to toe. Endocrine 37:11-32.
4. Farooqi S, O'Rahilly S. 2006. Genetics of obesity in humans. Endocr Rev 27:710-718.
5. Fujisaka S, Usui I, Kanatani Y, Ikutani M, Takasaki I, Tsuneyama K, Tabuchi Y, Bukhari A, Yamazaki Y, Suzuki H, Senda S, Aminuddin A, Nagai Y, Takatsu K, Kobayashi M, Tobe K. 2011. Telmisartan improves insulin resistance and modulates adipose tissue macrophage polarization in high-fat-fed mice. Endocrinology 152:1789-1799.
6. Haberlandt E, Spreiz A, Sigl SB, Janetschek C, Röthlisberger B, Zotter S, Rostasy K, Zschocke J, Kotzot D. 2012. Microdeletion 19p13.2 in an almost 5-year-old boy. Am J Med Genet Part A 158A:1190-1194.
7. Ilyas R, Wallis R, Soilleux EJ, Townsend P, Zehnder D, Tan BK, Sim RB, Lehnert H, Randeva HS, Mitchell DA. 2010. High glucose disrupts oligosaccharide recognition function via competitive inhibition: A potential mechanism for immune dysregulation in diabetes mellitus. Immunobiology 216:126-131.
8. Kelly T, Yang W, Chen CS, Reynolds K, He J. 2008. Global burden of obesity in 2005 and projections to 2030. Int J Obes (Lond) 32:1431-1437.
9. Kopelman PG. 2000. Obesity as a medical problem. Nature 404:635-643.
10. Lehrke M, Reilly MP, Millington SC, Iqbal N, Rader DJ, Lazar MA. 2004. An inflammatory cascade leading to hyperresistinemia in humans. PLoS Med 1:e45.
11. Marantos G, Daskalakis M, Karkavitsas N, Matalliotakis I, Papadakis JA, Melissas J. 2011. Changes in metabolic profile and adipoinsular axis in morbidly obese premenopausal females treated with restrictive bariatric surgery. World J Surg 35:2022-2030.
12. Qi Y, Nie Z, Lee YS, Singhal NS, Scherer PE, Lazar MA, Ahima RS. 2006. Loss of resistin improves glucose homeostasis in leptin deficiency. Diabetes 55:3083-3090.
13. Rosen ED, Spiegelman BM. 2006. Adipocytes as regulators of energy balance and glucose homeostasis. Nature 444:847-853.
14. Santoro S, Milleo FQ, Malzoni CE, Klajner S, Borges PC, Santo MA, Campos FG, Artoni RF. 2008. Enterohormonal changes after digestive adaptation: Five-year results of a surgical proposal to treat obesity and associated diseases. Obes Surg 18:17-26.
15. Schwartz DR, Lazar MA. 2011. Human resistin: Found in translation from mouse to man. Trends Endocrinol Metab 22:259-265.
16. Tzanavari T, Giannogonas P, Karalis KP. 2010. TNF-alpha and obesity. Curr Dir Autoimmun 11:145-156.
17. Yang R, Barouch LA. 2007. Leptin signaling and obesity: Cardiovascular consequences. Circ Res 101:545-559.