Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 825-832

  Petti, Marilena ^a   Samanich, Joy ^b   Pan, Qiulu ^b   Huang, Chih Kang ^b   Reinmund, Jana ^c   Farooqi, Sadaf ^c   Morrow, Bernice ^a   Babcock, Melanie ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b MONTEFIORE MEDICAL CENTER   (United States)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

1p31.3; ACGH; Deletions; LEPR; Obesity; PDE4B

Indexed keywords

ADOLESCENT; AK3L1 GENE; ALLELE; ARTICLE; CACHD1 GENE; CASE REPORT; CHROMOSOME 1P; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; DNA DETERMINATION; FACE DYSMORPHIA; FACIES; FAMILY HISTORY; FEBRILE CONVULSION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE SEQUENCE; GENETIC COUNSELING; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; IL12RB2 GENE; IL23R GENE; INSL5 GENE; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; INTERSTITIAL CHROMOSOME DELETION; JAK1 GENE; KARYOTYPE; LEPR GENE; LEPROT GENE; MALE; MALOCCLUSION; MIER1 GENE; OBESITY; PATHOGENESIS; PDE4B GENE; PERCEPTION DEAFNESS; PERSONALITY DISORDER; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RAVER2 GENE; SERBP1 GENE; SGIR1 GENE; SLC35D1 GENE; TCTEX1D1 GENE; TRIGONOCEPHALY; WDR78 GENE;

ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 4; GENE ORDER; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MENTAL DISORDERS; OBESITY, ABDOMINAL; PEDIGREE; PHENOTYPE; RECEPTORS, LEPTIN;

EID: 79953317449     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33869     Document Type: Article

References (29)

1. Bejjani BA, Shaffer LG. 2008. Clinical utility of contemporary molecular cytogenetics. Annu Rev Genomics Hum Genet 9: 71-86.
2. Bene M, Duca-Marinescu A, Ioan D, Maximilian C. 1979. De novo interstitial deletion del(1)(p21p32). J Med Genet 16: 323-327.
3. Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F. 2007. Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants? Eur J Med Genet 50: 243-255.
4. Blackwood DH, Fordyce A, Walker MT, St Clair DM, Porteous DJ, Muir WJ. 2001. Schizophrenia and affective disorders-cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: Clinical and P300 findings in a family. Am J Hum Genet 69: 428-433.
5. Borg K, Nowakowska B, Obersztyn E, Cheung SW, Brycz-Witkowska J, Korniszewski L, Mazurczak T, Stankiewicz P, Bocian E. 2007. Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am J Med Genet Part A 143A: 2738-2743.
6. Brandon NJ, Handford EJ, Schurov I, Rain JC, Pelling M, Duran-Jimeniz B, Camargo LM, Oliver KR, Beher D, Shearman MS, Whiting PJ. 2004. Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: Implications for schizophrenia and other major neurological disorders. Mol Cell Neurosci 25: 42-55.
7. Bray GA, York DA. 1979. Hypothalamic and genetic obesity in experimental animals: An autonomic and endocrine hypothesis. Physiol Rev 59: 719-809.
8. Camargo LM, Collura V, Rain JC, Mizuguchi K, Hermjakob H, Kerrien S, Bonnert TP, Whiting PJ, Brandon NJ. 2007. Disrupted in Schizophrenia 1 Interactome: Evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. Mol Psychiatry 12: 74-86.
9. Clapcote SJ, Lipina TV, Millar JK, Mackie S, Christie S, Ogawa F, Lerch JP, Trimble K, Uchiyama M, Sakuraba Y, Kaneda H, Shiroishi T, Houslay MD, Henkelman RM, Sled JG, Gondo Y, Porteous DJ, Roder JC. 2007. Behavioral phenotypes of Disc1 missense mutations in mice. Neuron 54: 387-402.
10. Clement K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougnères P, Lebouc Y, Froguel P, Guy-Grand B. 1998. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 392: 398-401.
11. Davis RL, Cherry J, Dauwalder B, Han PL, Skoulakis E. 1995. The cyclic AMP system and Drosophila learning. Mol Cell Biochem 149-150: 271-278.
12. Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S. 2007. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 356: 237-247.
13. Fatemi SH, King DP, Reutiman TJ, Folsom TD, Laurence JA, Lee S, Fan YT, Paciga SA, Conti M, Menniti FS. 2008. PDE4B polymorphisms and decreased PDE4B expression are associated with schizophrenia. Schizophr Res 101: 36-49.
14. Fei H, Okano HJ, Li C, Lee GH, Zhao C, Darnell R, Friedman JM. 1997. Anatomic localization of alternatively spliced leptin receptors (Ob-R) in mouse brain and other tissues. Proc Natl Acad Sci USA 94: 7001-7005.
15. Friedman JM, Halaas JL. 1998. Leptin and the regulation of body weight in mammals. Nature 395: 763-770.
16. Lai MM, Robards MF, Berry AC, Fear CN, Hart C. 1991. Two cases of interstitial deletion 1p. J Med Genet 28: 128-130.
17. Lee GH, Proenca R, Montez JM, Carroll KM, Darvishzadeh JG, Lee JI, Friedman JM. 1996. Abnormal splicing of the leptin receptor in diabetic mice. Nature 379: 632-635.
18. Mercer JG, Hoggard N, Williams LM, Lawrence CB, Hannah LT, Trayhurn P. 1996. Localization of leptin receptor mRNA and the long form splice variant (Ob-Rb) in mouse hypothalamus and adjacent brain regions by in situ hybridization. FEBS Lett 387: 113-116.
19. Millar JK, Pickard BS, Mackie S, James R, Christie S, Buchanan SR, Malloy MP, Chubb JE, Huston E, Baillie GS, Thomson PA, Hill EV, Brandon NJ, Rain JC, Camargo LM, Whiting PJ, Houslay MD, Blackwood DH, Muir WJ, Porteous DJ. 2005. DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling. Science 310: 1187-1191.
20. Millar JK, Mackie S, Clapcote SJ, Murdoch H, Pickard BS, Christie S, Muir WJ, Blackwood DH, Roder JC, Houslay MD, Porteus DJ. 2007. Disrupted in schizophrenia 1 and phosphodiesterase 4B: Towards an understanding of psychiatric illness. J Physiol 584: 401-405.
21. Mircher C, Rethore MO, Lespinasse J, Fert-Ferrer S, Lundsteen C, Kirchoff M. 2003. Interstitial deletion of the short arm of chromosome 1: Attempt to establish a clinical phenotype (46, XX, del (1)(p22p32)). Am J Med Genet Part A 118A: 176-179.
22. Norman RA, Tataranni PA, Pratley R, Thompson DB, Hanson RL, Prochazka M, Baier L, Ehm MG, Sakul H, Foroud T, Garvey WT, Burns D, Knowler WC, Bennett PH, Bogardus C, Ravussin E. 1998. Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians. Am J Hum Genet 62: 659-668.
23. Numata S, Iga J, Nakataki M, Tayoshi S, Taniguchi K, Sumitani S, Tomotake M, Tanahashi T, Itakura M, Kamegaya Y, Tatsumi M, Sano A, Asada T, Kunugi H, Ueno S, Ohmori T. 2009. Gene expression and association analyses of the phosphodiesterase 4B (PDE4B) gene in major depressive disorder in the Japanese population. Am J Med Genet Part B 150B: 527-534.
24. Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S. 2005. Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenet Genome Res 111: 171-174.
25. Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA. 2006. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 149: 98-102.
26. Siuciak JA, McCarthy SA, Chapin DS, Martin AN. 2008. Behavioral and neurochemical characterization of mice deficient in the phosphodiesterase-4B (PDE4B) enzyme. Psychopharmacology (Berl) 197: 115-126.
27. Tartaglia LA, Dembski M, Weng X, Deng N, Culpepper J, Devos R, Richards GJ, Campfield LA, Clark FT, Deeds J, Muir C, Sanker S, Moriarty A, Moore KJ, Smutko JS, Mays GG, Wool EA, Monroe CA, Tepper RI. 1995. Identification and expression cloning of a leptin receptor, OB-R. Cell 83: 1263-1271.
28. Verma RS, Conte RA, Macera MJ, Khan AS, Hebi S, Masoud AA, al Zaman A, al Bader M. 1993. Molecular characterization of a complex translocation in a newborn infant. Am J Med Genet 46: 104-108.
29. Vickers MH, Reddy S, Ikenasio BA, Breier BH. 2001. Dysregulation of the adipoinsular axis-A mechanism for the pathogenesis of hyperleptinemia and adipogenic diabetes induced by fetal programming. J Endocrinol 170: 323-332.