Whole-Exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity

Obesity

Volumn 22, Issue 2, 2014, Pages 576-584

  Gill, Richard ^a,b   Cheung, Yee Him ^a   Shen, Yufeng ^a   Lanzano, Patricia ^a   Mirza, Nazrat M ^c,d   Ten, Svetlana ^e   MacLaren, Noel K ^f   Motaghedi, Roja ^g   Han, Joan C ^c   Yanovski, Jack A ^c   Leibel, Rudolph L ^a   Chung, Wendy K ^a  

^a Columbia University Medical Center ^*  (United States)

^b National Institutes of Health Maryland ^*  (United States)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e SUNY DOWNSTATE MEDICAL CENTER   (United States)

^f WEILL CORNELL MEDICAL COLLEGE   (United States)

^g UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACANTHOSIS NIGRICANS; ADOLESCENT; BODY MASS INDEX; CHILD; CONSANGUINITY; EXOME; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; INFANT; INSULIN; LEPTIN; MALE; PEDIATRIC OBESITY; PEDIGREE; RECEPTORS, LEPTIN; SEQUENCE ANALYSIS, DNA;

EID: 84895907503     PISSN: 19307381     EISSN: 1930739X     Source Type: Journal    
DOI: 10.1002/oby.20492     Document Type: Article

References (35)

1. Flegal KM, Carroll MD, Kit BK, Ogden CL,. Prevalence of obesity and trends in the distribution of body mass index among US adults, 1999-2010. JAMA 2012; 307: 491-497.
2. Flegal KM, Graubard BI, Williamson DF, Gail MH,. Cause-specific excess deaths associated with underweight, overweight, and obesity. JAMA 2007; 298: 2028-2037.
3. Stunkard AJ, Foch TT, Hrubec Z,. A twin study of human obesity. JAMA 1986; 256: 51-54.
4. Stunkard AJ, Sorensen TI, Hanis C, et al. An adoption study of human obesity. N Engl J Med 1986; 314: 193-198.
5. Speliotes EK, Willer CJ, Berndt SI, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010; 42: 937-948.
6. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009; 461: 747-753.
7. Guey LT, Kravic J, Melander O, et al. Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants. Genet Epidemiol 2011; 35: 236-246.
8. Gilissen C, Hoischen A, Brunner HG, Veltman JA,. Unlocking Mendelian disease using exome sequencing. Genome Biol 2011; 12: 228.
9. Bell CG, Walley AJ, Froguel P,. The genetics of human obesity. Nat Rev Genet 2005; 6: 221-234.
10. Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 2009; 106: 19096-19101.
11. Seelow D, Schuelke M, Hildebrandt F, Nurnberg P,. HomozygosityMapper-an interactive approach to homozygosity mapping. Nucleic Acids Res 2009; 37: W593-W599.
12. DePristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011; 43: 491-498.
13. McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-1303.
14. Yu L, Wynn J, Cheung YH, et al. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet 2013; 132: 285-292.
15. Van Gaal LF, Wauters MA, Mertens IL, Considine RV, De Leeuw IH,. Clinical endocrinology of human leptin. Int J Obes Relat Metab Disord 1999; 23 (Suppl 1): 29-36.
16. Fernandez JR, Redden DT, Pietrobelli A, Allison DB,. Waist circumference percentiles in nationally representative samples of African-American, European-American, and Mexican-American children and adolescents. J Pediatr 2004; 145: 439-444.
17. Guo Y, Long J, He J, et al. Exome sequencing generates high quality data in non-target regions. BMC Genomics 2012; 13: 194.
18. Bainbridge MN, Wang M, Wu Y, et al. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol 2011; 12: R68.
19. Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003, 21: 577-581.
20. Farooqi IS, Wangensteen T, Collins S, et al. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 2007; 356: 237-247.
21. Rosenbaum M, Nicolson M, Hirsch J, et al. Effects of gender, body composition, and menopause on plasma concentrations of leptin. J Clin Endocrinol Metab 1996; 81: 3424-3427.
22. Rosenbaum M, Leibel RL,. Leptin: a molecule integrating somatic energy stores, energy expenditure and fertility. Trends Endocrinol Metab 1998; 9: 117-124.
23. Tartaglia LA,. The leptin receptor. J Biol Chem 1997; 272: 6093-6096.
24. Schwartz MW, Woods SC, Porte D Jr, Seeley RJ, Baskin DG,. Central nervous system control of food intake. Nature 2000; 404: 661-671.
25. Ge H, Huang L, Pourbahrami T, Li C,. Generation of soluble leptin receptor by ectodomain shedding of membrane-spanning receptors in vitro and in vivo. J Biol Chem 2002; 277: 45898-45903.
26. Bates SH, Myers MG Jr., The role of leptin receptor signaling in feeding and neuroendocrine function. Trends Endocrinol Metab 2003; 14: 447-452.
27. Bjorbaek C, Uotani S, da Silva B, Flier JS,. Divergent signaling capacities of the long and short isoforms of the leptin receptor. J Biol Chem 1997; 272: 32686-32695.
28. Montague CT, Farooqi IS, Whitehead JP, et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997; 387: 903-908.
29. Clement K, Vaisse C, Lahlou N, et al. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 1998; 392: 398-401.
30. Strobel A, Issad T, Camoin L, Ozata M, Strosberg AD,. A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet 1998; 18: 213-215.
31. Farooqi IS, Jebb SA, Langmack G, et al,. Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med 1999; 341: 879-884.
32. Lahlou N, Clement K, Carel JC, et al. Soluble leptin receptor in serum of subjects with complete resistance to leptin: relation to fat mass. Diabetes 2000; 49: 1347-1352.
33. Farooqi IS, Wangensteen T, Collins S, et al. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 2007; 356: 237-247.
34. Tishkoff SA, Reed FA, Friedlaender FR, et al. The genetic structure and history of Africans and African Americans. Science 2009; 324: 1035-1044.
35. Peng B, Li B, Han Y, Amos CI,. Power analysis for case-control association studies of samples with known family histories. Hum Genet 2010; 127: 699-704.