Copy number variants in obesity-related syndromes: Review and perspectives on novel molecular approaches

Journal of Obesity

Volumn 2012, Issue , 2012, Pages

  D'Angelo, Carla Sustek ^a   Koiffmann, Celia Priszkulnik ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; ALPHA INTERMEDIN; BRAIN DERIVED NEUROTROPHIC FACTOR; BRAIN DERIVED NEUROTROPHIC FACTOR RECEPTOR; DNA; FAT MASS AND OBESITY ASSOCIATED PROTEIN; GROWTH HORMONE; LEPTIN; LEPTIN RECEPTOR; MELANOCORTIN; MESSENGER RNA; PROOPIOMELANOCORTIN; PROPROTEIN CONVERTASE 1; SMALL NUCLEOLAR RNA; UNCLASSIFIED DRUG;

ADRENAL INSUFFICIENCY; ALLELE; ARCUATE NUCLEUS; AUTISM; AUTOIMMUNE DISEASE; BODY MASS; BRACHYDACTYLY; CARDIOMYOPATHY; CHROMOSOME 16P; CHROMOSOME DELETION; COHEN SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DIGEORGE SYNDROME; DIGESTIVE SYSTEM FUNCTION DISORDER; DISEASE SEVERITY; ETHNICITY; FAT MASS; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOMICS; GENOTYPE; HERITABILITY; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN GENOME; HYPERINSULINEMIA; HYPERPHAGIA; HYPOGLYCEMIA; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMIC PARAVENTRICULAR NUCLEUS; INSULIN RESISTANCE; INTRACELLULAR SIGNALING; MENTAL DEFICIENCY; MONOSOMY; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; OBESITY; PHENOTYPE; POLYMERASE CHAIN REACTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SMITH MAGENIS SYNDROME; SYNDROME; VELOCARDIOFACIAL SYNDROME; WAGR SYNDROME; X LINKED MENTAL RETARDATION; CHROMOSOME 16; GENETICS; NUCLEIC ACID HYBRIDIZATION;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; DNA COPY NUMBER VARIATIONS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; NUCLEIC ACID HYBRIDIZATION; OBESITY;

MLCS; MLOWN;

EID: 84872133329     PISSN: 20900708     EISSN: 20900716     Source Type: Journal    
DOI: 10.1155/2012/845480     Document Type: Review

References (112)

1. World Health Organization, Physical status: the use and interpretation of anthropometry. Report of a WHO Expert Committee, Technical Report Series, 854 1995 Geneva, Switzerland World Health Organization
2. National Institutes of Health, Clinical guidelines on the identification, evaluation, and treatment of overweight and obesity in adults: the evidence report. Obesity Research 1998 6 supplement 2 51S 209S
3. National Institutes of Health, Erratum: clinical guidelines on the identification, evaluation, and treatment of overweight and obesity in adults: the evidence report. Obesity Research 1998 6 6, article 464
4. Swinburn B., Egger G., Raza F., Dissecting obesogenic environments: the development and application of a framework for identifying and prioritizing environmental interventions for obesity. Preventive Medicine 1999 29 6 563 570 2-s2.0-0033392040 10.1006/pmed.1999.0585 (Pubitemid 30026552)
5. Stunkard A. J., Foch T. T., Hrubec Z., A twin study of human obesity. Journal of the American Medical Association 1986 256 1 51 54 2-s2.0-0022589555 (Pubitemid 16093199)
6. Maes H. H. M., Neale M. C., Eaves L. J., Genetic and environmental factors in relative body weight and human adiposity. Behavior Genetics 1997 27 4 325 351 2-s2.0-0030843960 10.1023/A:1025635913927 (Pubitemid 27415169)
7. Ranadive S. A., Vaisse C., Lessons from extreme human obesity: monogenic disorders. Endocrinology and Metabolism Clinics of North America 2008 37 3 733 751 2-s2.0-50449099144 10.1016/j.ecl.2008.07.003
8. Goldstone A., Beales P., Genetic obesity syndromes. Frontiers of Hormone Research 2007 36 37 60 2-s2.0-43049131518 10.1159/000115336
9. Beales P. R., Farooqi I. S., O'Rahilly S., Genetics of Obesity Syndromes 2009 New York, NY, USA Oxford University Press
10. Kousta E., Hadjiathanasiou C. G., Tolis G., Papathanasiou A., Pleiotropic genetic syndromes with developmental abnormalities associated with obesity. Journal of Pediatric Endocrinology and Metabolism 2009 22 7 581 592 2-s2.0-69949179931
11. Neel J. V., Diabetes mellitus: a «thrifty» genotype rendered detrimental by «progress»? American Journal of Human Genetics 1962 14 353 362 2-s2.0-70349566593
12. Bell C. G., Walley A. J., Froguel P., The genetics of human obesity. Nature Reviews Genetics 2005 6 3 221 234 2-s2.0-14344266748 10.1038/nrg1556 (Pubitemid 40293032)
13. Walley A. J., Asher J. E., Froguel P., The genetic contribution to non-syndromic human obesity. Nature Reviews Genetics 2009 10 7 431 442 2-s2.0-67649793700 10.1038/nrg2594
14. Ramachandrappa S., Farooqi I. S., Genetic approaches to understanding human obesity. Journal of Clinical Investigation 2011 121 6 2080 2086 2-s2.0-79957925582 10.1172/JCI46044
15. Hindorff L. A., Sethupathy P., Junkins H. A., Ramos E. M., Mehta J. P., Collins F. S., Manolio T. A., Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proceedings of the National Academy of Sciences of the United States of America 2009 106 23 9362 9367 2-s2.0-67249117049 10.1073/pnas.0903103106
16. Day F. R., Loss R. J. F., Developments in obesity genetics in the era of genome-wide association studies. Journal of Nutrigenetics and Nutrigenomics 2011 4 222 238 10.1159/000332158
17. Speliotes E. K., Willer C. J., Berndt S. I., Association analyses of 249, 796 individuals reveal 18 new loci associated with body mass index. Nature Genetics 2010 42 937 948 10.1038/ng.686
18. Choquet H., Meyre D., Molecular basis of obesity: current status and future prospects. Current Genomics 2011 12 3 154 168 2-s2.0-79956274938
19. Cheung W. W., Mao P., Recent advances in obesity: genetics and beyond. ISRN Endocrinology 2012 2012 536905 10.5402/2012/536905
20. Tung Y. C. L., Yeo G. S. H., From GWAS to biology: lessons from FTO. Annals of the New York Academy of Sciences 2011 1220 1 162 171 2-s2.0-79952474482 10.1111/j.1749-6632.2010.05903.x
21. Schmid P. M., Heid I., Buechler C., Expression of fourteen novel obesity-related genes in zucker diabetic fatty rats. Cardiovascular Diabetology 2012 11, article 48
22. Dickson S. P., Wang K., Krantz I., Hakonarson H., Goldstein D. B., Rare variants create synthetic genome-wide associations. PLoS Biology 2010 8 1 e1000294 2-s2.0-77249134594 10.1371/journal.pbio.1000294
23. Anderson C. A., Soranzo N., Zeggini E., Barrett J. C., Synthetic associations are unlikely to account for many common disease genome-wide association signals. PLoS Biology 2011 9 1 2-s2.0-79851468862 10.1371/journal.pbio.1000580 e1000580
24. Scherag A., Jarick I., Grothe J., Biebermann H., Scherag S., Volckmar A. L., Vogel C. I. G., Greene B., Hebebrand J., Hinney A., Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus. PLoS ONE 2010 5 11 2-s2.0-78649502323 10.1371/journal.pone.0013967 e13967
25. Manolio T. A., Collins F. S., Cox N. J., Goldstein D. B., Hindorff L. A., Hunter D. J., McCarthy M. I., Ramos E. M., Cardon L. R., Chakravarti A., Cho J. H., Guttmacher A. E., Kong A., Kruglyak L., Mardis E., Rotimi C. N., Slatkin M., Valle D., Whittemore A. S., Boehnke M., Clark A. G., Eichler E. E., Gibson G., Haines J. L., MacKay T. F. C., McCarroll S. A., Visscher P. M., Finding the missing heritability of complex diseases. Nature 2009 461 7265 747 753 2-s2.0-70349956433 10.1038/nature08494
26. Cirulli E. T., Goldstein D. B., Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nature Reviews Genetics 2010 11 6 415 425 2-s2.0-77952574849 10.1038/nrg2779
27. Yang J., Manolio T. A., Pasquale L. R., Boerwinkle E., Caporaso N., Cunningham J. M., De Andrade M., Feenstra B., Feingold E., Hayes M. G., Hill W. G., Landi M. T., Alonso A., Lettre G., Lin P., Ling H., Lowe W., Mathias R. A., Melbye M., Pugh E., Cornelis M. C., Weir B. S., Goddard M. E., Visscher P. M., Genome partitioning of genetic variation for complex traits using common SNPs. Nature Genetics 2011 43 6 519 525 2-s2.0-79957588287 10.1038/ng.823
28. Iafrate A. J., Feuk L., Rivera M. N., Listewnik M. L., Donahoe P. K., Qi Y., Scherer S. W., Lee C., Detection of large-scale variation in the human genome. Nature Genetics 2004 36 9 949 951 2-s2.0-4444291843 10.1038/ng1416 (Pubitemid 39167488)
29. Sebat J., Lakshmi B., Troge J., Alexander J., Young J., Lundin P., Månér S., Massa H., Walker M., Chi M., Navin N., Lucito R., Healy J., Hicks J., Ye K., Reiner A., Gilliam T. C., Trask B., Patterson N., Zetterberg A., Wigler M., Large-scale copy number polymorphism in the human genome. Science 2004 305 5683 525 528 2-s2.0-3242808027 10.1126/science.1098918 (Pubitemid 38971344)
30. Redon R., Ishikawa S., Fitch K. R., Feuk L., Perry G. H., Andrews T. D., Fiegler H., Shapero M. H., Carson A. R., Chen W., Cho E. K., Dallaire S., Freeman J. L., González J. R., Gratacòs M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J. R., Marshall C. R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M. J., Tchinda J., Valsesia A., Woodwark C., Yang F., Zhang J., Zerjal T., Zhang J., Armengol L., Conrad D. F., Estivill X., Tyler-Smith C., Carter N. P., Aburatani H., Lee C., Jones K. W., Scherer S. W., Hurles M. E., Global variation in copy number in the human genome. Nature 2006 444 7118 444 454 2-s2.0-33751329250 10.1038/nature05329 (Pubitemid 44809057)
31. Stankiewicz P., Lupski J. R., Structural variation in the human genome and its role in disease. Annual Review of Medicine 2010 61 437 455 2-s2.0-77949831756 10.1146/annurev-med-100708-204735
32. Lupski J. R., Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends in Genetics 1998 14 10 417 422 2-s2.0-0031731487 10.1016/S0168-9525(98)01555-8 (Pubitemid 28505586)
33. Lupski J. R., Genomic disorders ten years on. Genome Medicine 2009 1 4, article 42 2-s2.0-67649973564 10.1186/gm42
34. Conrad D. F., Bird C., Blackburne B., Lindsay S., Mamanova L., Lee C., Turner D. J., Hurles M. E., Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nature Genetics 2010 42 5 385 391 2-s2.0-77951700086 10.1038/ng.564
35. McCarroll S. A., Kuruvilla F. G., Korn J. M., Cawley S., Nemesh J., Wysoker A., Shapero M. H., De Bakker P. I. W., Maller J. B., Kirby A., Elliott A. L., Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins P. J., Handsaker R., Lincoln S., Nizzari M., Blume J., Jones K. W., Rava R., Daly M. J., Gabriel S. B., Altshuler D., Integrated detection and population-genetic analysis of SNPs and copy number variation. Nature Genetics 2008 40 10 1166 1174 2-s2.0-52949141845 10.1038/ng.238
36. Craddock N., Hurles M. E., Cardin N., Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010 464 713 720 10.1038/nature08979
37. Hindorff L. A., Sethupathy P., Junkins H. A., Ramos E. M., Mehta J. P., Collins F. S., Manolio T. A., Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proceedings of the National Academy of Sciences of the United States of America 2009 106 23 9362 9367 2-s2.0-67249117049 10.1073/pnas.0903103106
38. The ENCODE Project Consortium, An integrated encyclopedia of DNA elements in the human genome. Nature 2012 489 57 74 10.1038/nature11247
39. Willer C. J., Speliotes E. K., Loos R. J., Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics 2009 41 25 34 10.1038/ng.287
40. Sha B. Y., Yang T. L., Zhao L. J., Chen X. D., Guo Y., Chen Y., Pan F., Zhang Z. X., Dong S. S., Xu X. H., Deng H. W., Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population. Journal of Human Genetics 2009 54 4 199 202 2-s2.0-66249144682 10.1038/jhg.2009.10
41. Jarick I., Vogel C. I., Scherag S., Schäfer H., Hebebrand J., Hinney A., Scherag A., Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis. Human Molecular Genetics 2011 20 4 840 852 2-s2.0-78751700313 10.1093/hmg/ddq518 ddq518
42. Gibson G., Rare and common variants: twenty arguments. Nature Reviews Genetics 2011 13 135 145
43. Bochukova E. G., Huang N., Keogh J., Henning E., Purmann C., Blaszczyk K., Saeed S., Hamilton-Shield J., Clayton-Smith J., O'Rahilly S., Hurles M. E., Farooqi I. S., Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010 463 7281 666 670 2-s2.0-76349083132 10.1038/nature08689
44. Walters R. G., Jacquemont S., Valsesia A., A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2. Nature 2010 463 671 675 10.1038/nature08727
45. Wang K., Li W. D., Glessner J. T., Grant S. F. A., Hakonarson H., Price R. A., Large copy-number variations are enriched in cases with moderate to extreme obesity. Diabetes 2010 59 10 2690 2694 2-s2.0-77957606877 10.2337/db10-0192
46. Glessner J. T., Bradfield J. P., Wang K., Takahashi N., Zhang H., Sleiman P. M., Mentch F. D., Kim C. E., Hou C., Thomas K. A., Garris M. L., Deliard S., Frackelton E. C., Otieno F. G., Zhao J., Chiavacci R. M., Li M., Buxbaum J. D., Berkowitz R. I., Hakonarson H., Grant S. F. A., A genome-wide study reveals copy number variants exclusive to childhood obesity cases. American Journal of Human Genetics 2010 87 5 661 666 2-s2.0-78249239776 10.1016/j.ajhg.2010.09.014
47. Zhang D., Qian Y., Akula N., Alliey-Rodriguez N., Tang J., Gershon E. S., Liu C., Accuracy of CNV detection from GWAS data. PLoS ONE 2011 6 1 2-s2.0-79251545821 10.1371/journal.pone.0014511 e14511
48. Wineinger N. E., Tiwari H. K., The impact of errors in copy number variation detection algorithms on association results. PLoS ONE 2012 7 4 e32396
49. Girirajan S., Rosenfeld J. A., Cooper G. M., A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics 2010 42 203 209 10.1038/ng.534
50. Girirajan S., Eichler E. E., Phenotypic variability and genetic susceptibility to genomic disorders. Human Molecular Genetics 2010 19 2 R176 R187 2-s2.0-78650808443
51. Veltman J. A., Brunner H. G., Understanding variable expressivity in microdeletion syndromes. Nature Genetics 2010 42 3 192 193 2-s2.0-77649134592 10.1038/ng0310-192
52. Kaminsky E. B., Kaul V., Paschall J., An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genetics in Medicine 2011 13 777 784 10.1097/GIM.0b013e31822c79f9
53. Cooper G. M., Coe B. P., Girirajan S., A copy number variation morbidity map of developmental delay. Genetics in Medicine 2011 43 838 846
54. Bachmann-Gagescu R., Mefford H. C., Cowan C., Glew G. M., Hing A. V., Wallace S., Bader P. I., Hamati A., Reitnauer P. J., Smith R., Stockton D. W., Muhle H., Helbig I., Eichler E. E., Ballif B. C., Rosenfeld J., Tsuchiya K. D., Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genetics in Medicine 2010 12 10 641 647 2-s2.0-78049237730 10.1097/GIM.0b013e3181ef4286
55. ller D. T., Nasir R., Sobeih M. M., Shen Y., Wu B. L., Hanson E., Pagon R. A., Bird T. D., Dolan C. R., Stephens K., Adam M. P., 16p11.2 microdeletion. GeneReviews 2009 Seattle, Wash, USA University of Washington
56. Jacquemont S., Reymond A., Zufferey F., Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 478 97 102 10.1038/nature10406
57. Ren D., Li M., Duan C., Rui L., Identification of SH2-B as a key regulator of leptin sensitivity, energy balance, and body weight in mice. Cell Metabolism 2005 2 2 95 104 2-s2.0-25144523930 10.1016/j.cmet.2005.07.004
58. Shinawi M., Liu P., Kang S. H. L., Shen J., Belmont J. W., Scott D. A., Probst F. J., Craigen W. J., Graham B. H., Pursley A., Clark G., Lee J., Proud M., Stocco A., Rodriguez D. L., Kozel B. A., Sparagana S., Roeder E. R., McGrew S. G., Kurczynski T. W., Allison L. J., Amato S., Savage S., Patel A., Stankiewicz P., Beaudet A. L., Cheung S. W., Lupski J. R., Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Journal of Medical Genetics 2010 47 5 332 341 2-s2.0-77953704493 10.1136/jmg.2009.073015
59. Choquet H., Meyre D., Genomic insights into early-onset obesity. Genome Medicine 2010 2 6, article 36 2-s2.0-78751696689 10.1186/gm157
60. Logan M. G., Pepper M. S., The genetics of obesity: the role of the melanocortin 4 receptor. Journal of Endocrinology, Metabolism and Diabetes of South Africa 2010 15 1 45 47 2-s2.0-78649662162
61. Holder J. L. Jr., Butte N. F., Zinn A. R., Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Human Molecular Genetics 2000 9 1 101 108 2-s2.0-0034016043 (Pubitemid 30145294)
62. Bonaglia M. C., Ciccone R., Gimelli G., Gimelli S., Marelli S., Verheij J., Giorda R., Grasso R., Borgatti R., Pagone F., Rodrìguez L., Martinez-Frias M. L., van Ravenswaaij C., Zuffardi O., Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. European Journal of Human Genetics 2008 16 12 1443 1449 2-s2.0-56749159050 10.1038/ejhg.2008.119
63. Gray J., Yeo G. S. H., Cox J. J., Morton J., Adlam A. L. R., Keogh J. M., Yanovski J. A., El Gharbawy A., Han J. C., Tung Y. C. L., Hodges J. R., Raymond F. L., O'Rahilly S., Farooqi I. S., Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Diabetes 2006 55 12 3366 3371 2-s2.0-33845530762 10.2337/db06-0550 (Pubitemid 44923594)
64. Han J. C., Liu Q. R., Jones M., Brain-derived neurotrophic factor and obesity in the WAGR syndrome. The New England Journal of Medicine 2008 359 918 927 10.1056/NEJMoa0801119
65. Yeo G. S. H., Hung C. C. C., Rochford J., Keogh J., Gray J., Sivaramakrishnan S., O'Rahilly S., Farooqi I. S., A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. Nature Neuroscience 2004 7 11 1187 1189 2-s2.0-7044262828 10.1038/nn1336 (Pubitemid 39426236)
66. Rankinen T., Zuberi A., Chagnon Y. C., Weisnagel S. J., Argyropoulos G., Walts B., Pérusse L., Bouchard C., The human obesity gene map: the 2005 update. Obesity 2006 14 4 529 644 2-s2.0-33749017409 10.1038/oby.2006.71 (Pubitemid 46219737)
67. Cassidy S. B., Driscoll D. J., Prader-Willi syndrome. European Journal of Human Genetics 2009 17 1 3 13 2-s2.0-57649228925 10.1038/ejhg.2008.165
68. Herrera B. M., Keildson S., Lindgren C. M., Genetics and epigenetics of obesity. Maturitas 2011 69 1 41 49 2-s2.0-79954632830 10.1016/j.maturitas.2011. 02.018
69. Sahoo T., Del Gaudio D., German J. R., Shinawi M., Peters S. U., Person R. E., Garnica A., Cheung S. W., Beaudet A. L., Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nature Genetics 2008 40 6 719 721 2-s2.0-44349191455 10.1038/ng.158 (Pubitemid 351748873)
70. de Smith A. J., Purmann C., Walters R. G., Ellis R. J., Holder S. E., Van Haelst M. M., Brady A. F., Fairbrother U. L., Dattani M., Keogh J. M., Henning E., Yeo G. S. H., O'Rahilly S., Froguel P., Sadaf Farooqi I., Blakemore A. I. F., A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Human Molecular Genetics 2009 18 17 3257 3265 2-s2.0-68749097161 10.1093/hmg/ddp263
71. Duker A. L., Ballif B. C., Bawle E. V., Person R. E., Mahadevan S., Alliman S., Thompson R., Traylor R., Bejjani B. A., Shaffer L. G., Rosenfeld J. A., Lamb A. N., Sahoo T., Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. European Journal of Human Genetics 2010 18 11 1196 1201 2-s2.0-77958486211 10.1038/ejhg.2010.102
72. Kanber D., Giltay J., Wieczorek D., Zogel C., Hochstenbach R., Caliebe A., Kuechler A., Horsthemke B., Buiting K., A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. European Journal of Human Genetics 2009 17 5 582 590 2-s2.0-67349186905 10.1038/ejhg.2008.232
73. Chen Y., Liu Y. J., Pei Y. F., Yang T. L., Deng F. Y., Liu X. G., Li D. Y., Deng H. W., Copy number variations at the prader-Willi syndrome region on chromosome 15 and associations with obesity in whites. Obesity 2011 19 6 1229 1234 2-s2.0-79957534316 10.1038/oby.2010.323
74. Hsiao Y.-C., Tuz K., Ferland R. J., Trafficking in and to the primary cilium. Cilia 2012 1, article 4
75. Guo D. F., Rahmouni K., Molecular basis of the obesity associated with Bardet-Biedl syndrome. Trends in Endocrinology and Metabolism 2011 22 7 286 293 2-s2.0-79959874896 10.1016/j.tem.2011.02.009
76. Benzinou M., Walley A., Lobbens S., Charles M. A., Jouret B., Fumeron F., Balkau B., Meyre D., Froguel P., Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. Diabetes 2006 55 10 2876 2882 2-s2.0-33748994054 10.2337/db06-0337 (Pubitemid 44923690)
77. Beales P. L., Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Current Opinion in Genetics and Development 2005 15 3 315 323 2-s2.0-19444377129 10.1016/j.gde.2005.04.006 (Pubitemid 40726056)
78. Marshall J. D., Maffei P., Collin G. B., Naggert J. K., Alström syndrome: genetics and clinical overview. Current Genomics 2011 12 3 225 235 2-s2.0-79956271015
79. Girard D., Petrovsky N., Alström syndrome: insights into the pathogenesis of metabolic disorders. Nature Reviews Endocrinology 2011 7 2 77 88 2-s2.0-79451474853 10.1038/nrendo.2010.210
80. Jenkins D., Seelow D., Jehee F. S., RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics 2007 80 1162 1170 10.1086/518047 (Pubitemid 47579351)
81. Simpson F., Kerr M. C., Wicking C., Trafficking, development and hedgehog. Mechanisms of Development 2009 126 5-6 279 288 2-s2.0-67349165028 10.1016/j.mod.2009.01.007
82. Seifert W., Kühnisch J., Maritzen T., Horn D., Haucke V., Hennies H. C., Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. The Journal of Biological Chemistry 2011 286 37665 37675 10.1074/jbc.M111.267971
83. Budny B., Badura-Stronka M., Materna-Kiryluk A., Tzschach A., Raynaud M., Latos-Bielenska A., Ropers H. H., Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. Clinical Genetics 2010 77 6 541 551 2-s2.0-77953951584 10.1111/j.1399-0004.2010.01429.x
84. Tarpey P. S., Raymond F. L., O'Meara S., Edkins S., Teague J., Butler A., Dicks E., Stevens C., Tofts C., Avis T., Barthorpe S., Buck G., Cole J., Gray K., Halliday K., Harrison R., Hills K., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Varian J., West S., Widaa S., Mallya U., Moon J., Luo Y., Holder S., Smithson S. F., Hurst J. A., Clayton-Smith J., Kerr B., Boyle J., Shaw M., Vandeleur L., Rodriguez J., Slaugh R., Easton D. F., Wooster R., Bobrow M., Srivastava A. K., Stevenson R. E., Schwartz C. E., Turner G., Gecz J., Futreal P. A., Stratton M. R., Partington M., Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. American Journal of Human Genetics 2007 80 2 345 352 2-s2.0-33846639529 10.1086/511134 (Pubitemid 46175682)
85. Williams S. R., Aldred M. A., Der Kaloustian V. M., Halal F., Gowans G., McLeod D. R., Zondag S., Toriello H. V., Magenis R. E., Elsea S. H., Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. American Journal of Human Genetics 2010 87 2 219 228 2-s2.0-77955584378 10.1016/j.ajhg.2010.07.011
86. Kleefstra T., Smidt M., Banning M. J. G., Oudakker A. R., Van Esch H., De Brouwer A. P. M., Nillesen W., Sistermans E. A., Hamel B. C. J., De Bruijn D., Fryns J. P., Yntema H. G., Brunner H. G., De Vries B. B. A., Van Bokhoven H., Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. Journal of Medical Genetics 2005 42 4 299 306 2-s2.0-20244368362 10.1136/jmg.2004.028464 (Pubitemid 40523951)
87. Kleefstra T., Van Zelst-Stams W. A., Nillesen W. M., Cormier-Daire V., Houge G., Foulds N., Van Dooren M., Willemsen M. H., Pfundt R., Turner A., Wilson M., McGaughran J., Rauch A., Zenker M., Adam M. P., Innes M., Davies C., González-Meneses López A., Casalone R., Weber A., Brueton L. A., Delicado Navarro A., Palomares Bralo M., Venselaar H., Stegmann S. P. A., Yntema H. G., Van Bokhoven H., Brunner H. G., Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics 2009 46 9 598 606 2-s2.0-69749123793 10.1136/jmg.2008.062950
88. Slager R. E., Newton T. L., Vlangos C. N., Finucane B., Elsea S. H., Mutations in RAI1 associated with Smith-Magenis syndrome. Nature Genetics 2003 33 4 466 468 2-s2.0-0344177207 10.1038/ng1126 (Pubitemid 36390007)
89. Edelman E. A., Girirajan S., Finucane B., Patel P. I., Lupski J. R., Smith A. C. M., Elsea S. H., Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clinical Genetics 2007 71 6 540 550 2-s2.0-34249655697 10.1111/j.1399-0004.2007.00815.x (Pubitemid 46831948)
90. Girirajan S., Truong H. T., Blanchard C. L., Elsea S. H., A functional network module for Smith-Magenis syndrome. Clinical Genetics 2009 75 4 364 374 2-s2.0-64949182814 10.1111/j.1399-0004.2008.01135.x
91. Han J. C., Muehlbauer M. J., Cui H. N., Newgard C. B., Haqq A. M., Lower brain-derived neurotrophic factor in patients with Prader-Willi syndrome compared to obese and lean control subjects. Journal of Clinical Endocrinology and Metabolism 2010 95 7 3532 3536 2-s2.0-77954947327 10.1210/jc.2010-0127
92. Burns B., Schmidt K., Williams S. R., Kim S., Girirajan S., Elsea S. H., Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome. Human Molecular Genetics 2010 19 20 4026 4042 2-s2.0-77957743861 10.1093/hmg/ddq317 ddq317
93. Falk R. E., Casas K. A., Chromosome 2q37 deletion: clinical and molecular aspects. American Journal of Medical Genetics, Part C 2007 145 4 357 371 2-s2.0-36348989543 10.1002/ajmg.c.30153 (Pubitemid 350155974)
94. Shapira S. K., McCaskill C., Northrup H., Spikes A. S., Elder F. F. B., Sutton V. R., Korenberg J. R., Greenberg F., Shaffer L. G., Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. American Journal of Human Genetics 1997 61 3 642 650 2-s2.0-0030870848 (Pubitemid 27418406)
95. Battaglia A., Hoyme H. E., Dallapiccola B., Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008 121 404 410 10.1542/peds.2007-0929 (Pubitemid 351198468)
96. D'Angelo C. S., Kohl I., Varela M. C., De Castro C. I. E., Kim C. A., Bertola D. R., Lourenço C. M., Koiffmann C. P., Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. American Journal of Medical Genetics, Part A 2010 152 1 102 110 2-s2.0-75149120622 10.1002/ajmg.a.33160
97. Rosenfeld J. A., Crolla J. A., Tomkins S., Bader P., Morrow B., Gorski J., Troxell R., Forster-Gibson C., Cilliers D., Hislop R. G., Lamb A., Torchia B., Ballif B. C., Shaffer L. G., Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. American Journal of Medical Genetics, Part A 2010 152 8 1951 1959 2-s2.0-77955286349 10.1002/ajmg.a.33516
98. Rosenfeld J. A., Amrom D., Andermann E., Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Neurogenetics 2012 13 1 31 47 10.1007/s10048-011-0306-5
99. Stewart D. R., Kleefstra T., The chromosome 9q subtelomere deletion syndrome. American Journal of Medical Genetics, Part C 2007 145 4 383 392 2-s2.0-36348945680 10.1002/ajmg.c.30148 (Pubitemid 350155977)
100. Cormier-Daire V., Molinari F., Rio M., Raoul O., De Blois M. C., Romana S., Vekemans M., Munnich A., Colleaux L., Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? Journal of Medical Genetics 2003 40 4 300 303 2-s2.0-0037374847 (Pubitemid 36506446)
101. Kleefstra T., Kramer J. M., Neveling K., Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. The American Journal of Human Genetics 2011 91 1 73 82
102. Willemsen M. H., Vallès A., Kirkels L. A., Chromosome 1p21. 3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. Journal of Medical Genetics 2011 48 810 818 10.1136/jmedgenet-2011- 100294
103. Stevens S. J. C., van Ravenswaaij-Arts C. M. A., Janssen J. W. H., MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions. American Journal of Medical Genetics Part A 2011 155 2739 2745 10.1002/ajmg.a.34274
104. Wentzel C., Lynch S. A., Stattin E. L., Sharkey F. H., Annerén G., Thuresson A. C., Interstitial deletions at 6q14.1-q15 associated with obesity, developmental delay and a distinct clinical phenotype. Molecular Syndromology 2010 1 2 75 81 2-s2.0-79952120967 10.1159/000314025
105. Shinawi M., Sahoo T., Maranda B., Skinner S. A., Skinner C., Chinault C., Zascavage R., Peters S. U., Patel A., Stevenson R. E., Beaudet A. L., 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. American Journal of Medical Genetics, Part A 2011 155 6 1272 1280 2-s2.0-79956223036 10.1002/ajmg.a.33878
106. Davidsson J., Jahnke K., Forsgren M., Collin A., Soller M., Dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome. Obesity 2010 18 3 580 587 2-s2.0-77249127382 10.1038/oby.2009.298
107. Dasouki M. J., Youngs E. L., Hovanes K., Structural chromosome abnormalities associated with obesity: report of four new subjects and review of literature. Current Genomics 2011 12 3 190 203 2-s2.0-79956274937
108. Miller D. T., Adam M. P., Aradhya S., Biesecker L. G., Brothman A. R., Carter N. P., Church D. M., Crolla J. A., Eichler E. E., Epstein C. J., Faucett W. A., Feuk L., Friedman J. M., Hamosh A., Jackson L., Kaminsky E. B., Kok K., Krantz I. D., Kuhn R. M., Lee C., Ostell J. M., Rosenberg C., Scherer S. W., Spinner N. B., Stavropoulos D. J., Tepperberg J. H., Thorland E. C., Vermeesch J. R., Waggoner D. J., Watson M. S., Martin C. L., Ledbetter D. H., Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics 2010 86 5 749 764 2-s2.0-77952032690 10.1016/j.ajhg.2010.04.006
109. Kearney H. M., Thorland E. C., Brown K. K., Quintero-Rivera F., South S. T., American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genetics in Medicine 2011 13 7 680 685 2-s2.0-79960812993 10.1097/GIM. 0b013e3182217a3a
110. Vauthier V., Jaillard S., Journel H., Dubourg C., Jockers R., Dam J., Homozygous deletion of a 80 kb region comprising the dnaj6c gene and part of the lepr gene on chromosome 1p31.3 is associated with early onset obesity, mental retardation and epilepsy. Molecular Genetics and Metabolism 2012 106 3 345 350 10.1016/j.ymgme.2012.04.026
111. Rivera-Brugués N., Albrecht B., Wieczorek D., Schmidt H., Keller T., Göhring I., Ekici A. B., Tzschach A., Garshasbi M., Franke K., Klopp N., Wichmann H. E., Meitinger T., Strom T. M., Hempel M., Cohen syndrome diagnosis using whole genome arrays. Journal of Medical Genetics 2011 48 2 136 140 2-s2.0-79551623751 10.1136/jmg.2010.082206
112. Redin C., Le Gras S., Mhamdi O., Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes. Journal of Medical Genetics 2012 49 8 502 512 10.1136/jmedgenet-2012-100875