3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Iourov, Ivan Y ^a,b,c   Vorsanova, Svetlana G ^a,b,d   Voinova, Victoria Y ^a,b,d   Yurov, Yuri B ^a,b,d  

^a MENTAL HEALTH RESEARCH CENTER   (Russian Federation)

^b PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

^c Russian Academy of Post Graduate Medical Education   (Russian Federation)

^d MOSCOW STATE UNIVERSITY OF PSYCHOLOGY AND EDUCATION   (Russian Federation)

Author keywords

Asperger syndrome; Autism; Bioinformatics; Candidate gene; Chromosome abnormality; Therapeutic strategy; Zinc

Indexed keywords

CHOLECYSTOKININ; ZINC;

ARTICLE; ASPERGER SYNDROME; BIOINFORMATICS; CASE REPORT; CHILD; CHROMOSOME 3P; CHROMOSOME 3P22.1P21.31 MICRODELETION; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CHRONIC PANCREATITIS; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER MODEL; COPY NUMBER VARIATION; CYTOGENETICS; GENE DELETION; GENETIC LINKAGE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SEBORRHEIC DERMATITIS; ZINC BLOOD LEVEL; ZINC DEFICIENCY;

EID: 84946488614     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0185-9     Document Type: Article

References (48)

1. Gillberg C, Cederlund M. Asperger syndrome: familial and pre- and perinatal factors. J Autism Dev Disord. 2005;35(2):159-66.
2. Volkmar FR, McPartland JC. From Kanner to DSM-5: autism as an evolving diagnostic concept. Annu Rev Clin Psychol. 2014;10:193-212.
3. Autism Genome Project Consortium. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007;39(3):319-28.
4. Yurov YB, Vorsanova SG, Iourov IY, Demidova IA, Beresheva AK, Kravetz VS, et al. Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet. 2007;44(8):521-5.
5. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008;82(2):477-88.
6. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. 2008;9(5):341-55.
7. Iourov IY, Vorsanova SG, Yurov YB. Molecular cytogenetics and cytogenomics of brain diseases. Curr Genomics. 2008;9(7):452-65.
8. Huguet G, Ey E, Bourgeron T. The genetic landscapes of autism spectrum disorders. Annu Rev Genomics Hum Genet. 2013;14:191-213.
9. Jeste SS, Geschwind DH. Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol. 2014;10(2):74-81.
10. Persico AM, Napolioni V. Autism genetics. Behav Brain Res. 2013;251:95-112.
11. Wis̈niowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwińska K, Dymczak-Domini W, Szumbarska D, et al. Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. Eur J Hum Genet. 2013;21(6):620-5.
12. Iourov IY, Vorsanova SG, Yurov YB. Chromosomal variation in mammalian neuronal cells: known facts and attractive hypotheses. Int Rev Cytol. 2006;249:143-91.
13. Annerén G, Dahl N, Uddenfeldt U, Janols LO. Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11). Am J Med Genet. 1995;56(3):330-1.
14. Tentler D, Johannesson T, Johansson M, Råstam M, Gillberg C, Orsmark C, et al. A candidate region for Asperger syndrome defined by two 17p breakpoints. Eur J Hum Genet. 2003;11(2):189-95.
15. Fontenelle LF, Mendlowicz MV, Bezerra de Menezes G, dos Santos Martins RR, Versiani M. Asperger Syndrome, obsessive-compulsive disorder, and major depression in a patient with 45,X/46,XY mosaicism. Psychopathology. 2004;37(3):105-9.
16. Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet. 2010;47(3):195-203.
17. Cashion L, Van Roden A. Asperger's disorder in an adolescent with 47, XYY chromosomal syndrome. Clin Pediatr (Phila). 2011;50(6):562-6.
18. Faucz FR, Souza J, Bonalumi Filho A, Sotomaior VS, Frantz E, Antoniuk S, et al. Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome? Am J Med Genet A. 2011;155A(9):2308-10.
19. Vulto-van Silfhout AT, de Brouwer AF, de Leeuw N, Obihara CC, Brunner HG, de Vries BB. A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome. Mol Syndromol. 2012;2(6):245-50.
20. Dasouki M, Roberts J, Santiago A, Saadi I, Hovanes K. Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome. Eur J Med Genet. 2014;57(2-3):76-80.
21. Rehnström K, Ylisaukko-oja T, Nieminen-von Wendt T, Sarenius S, Källman T, Kempas E, et al. Independent replication and initial fine mapping of 3p21-24 in Asperger syndrome. J Med Genet. 2006;43(2), e6.
22. Salyakina D, Ma DQ, Jaworski JM, Konidari I, Whitehead PL, Henson R, et al. Variants in several genomic regions associated with asperger disorder. Autism Res. 2010;3(6):303-10.
23. Warrier V, Chakrabarti B, Murphy L, Chan A, Craig I, Mallya U, et al. A pooled genome-wide association study of Asperger syndrome. PLoS One. 2015;10(7), e0131202.
24. Vorsanova SG, Yurov IY, Demidova IA, Voinova-Ulas VY, Kravets VS, Solov'ev IV, et al. Variability in the heterochromatin regions of the chromosomes and chromosomal anomalies in children with autism: identification of genetic markers of autistic spectrum disorders. Neurosci Behav Physiol. 2007;37(6):553-8.
25. Iourov IY, Vorsanova SG, Kurinnaia OS, Zelenova MA, Silvanovich AP, Yurov YB. Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Mol Cytogenet. 2012;5:46.
26. Vorsanova SG, Voinova VY, Yurov IY, Kurinnaya OS, Demidova IA, Yurov YB. Cytogenetic, molecular-cytogenetic, and clinical-genealogical studies of the mothers of children with autism: a search for familial genetic markers for autistic disorders. Neurosci Behav Physiol. 2010;40(7):745-56.
27. Iourov IY, Vorsanova SG, Liehr T, Kolotii AD, Yurov YB. Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. Hum Mol Genet. 2009;18(14):2656-69.
28. Iourov IY, Vorsanova SG, Yurov YB. In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research. Mol Cytogenet. 2014;7:98.
29. Amaral DG, Schumann CM, Nordahl CW. Neuroanatomy of autism. Trends Neurosci. 2008;31(3):137-45.
30. Wu C, Orozco C, Boyer J, Leglise M, Goodale J, Batalov S, et al. BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. Genome Biol. 2009;10:R130.
31. Lee SY, Soltesz I. Cholecystokinin: a multi-functional molecular switch of neuronal circuits. Dev Neurobiol. 2011;71(1):83-91.
32. Chaudhri O, Small C, Bloom S. Gastrointestinal hormones regulating appetite. Philos Trans R Soc Lond B Biol Sci. 2006;361(1471):1187-209.
33. Yu JH, Kim MS. Molecular mechanisms of appetite regulation. Diabetes Metab J. 2012;36(6):391-8.
34. Smith JP, Solomon TE. Cholecystokinin and pancreatic cancer: the chicken or the egg? Am J Physiol Gastrointest Liver Physiol. 2014;306(2):G91-G101.
35. Yasuda H, Yoshida K, Yasuda Y, Tsutsui T. Infantile zinc deficiency: association with autism spectrum disorders. Sci Rep. 2011;1:129.
36. Grabrucker S, Jannetti L, Eckert M, Gaub S, Chhabra R, Pfaender S, et al. Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders. Brain. 2014;137(Pt 1):137-52.
37. Vela G, Stark P, Socha M, Sauer AK, Hagmeyer S, Grabrucker AM. Zinc in gut-brain interaction in autism and neurological disorders. Neural Plast. 2015;2015:972791.
38. Lee YJ, Oh SH, Park C, Hong M, Lee AR, Yoo HJ, et al. Advanced pharmacotherapy evidenced by pathogenesis of autism spectrum disorder. Clin Psychopharmacol Neurosci. 2014;12(1):19-30.
39. Politte LC, Henry CA, McDougle CJ. Psychopharmacological interventions in autism spectrum disorder. Harv Rev Psychiatry. 2014;22(2):76-92.
40. Vorsanova SG, Yurov YB, Soloviev IV, Iourov IY. Molecular cytogenetic diagnosis and somatic genome variations. Curr Genomics. 2010;11:440-6.
41. Iourov IY, Vorsanova SG, Yurov YB. Single cell genomics of the brain: focus on neuronal diversity and neuropsychiatric diseases. Curr Genomics. 2012;13:477-88.
42. Iourov IY, Vorsanova SG, Yurov YB. Somatic cell genomics of brain disorders: a new opportunity to clarify genetic-environmental interactions. Cytogenet Genome Res. 2013;139:181-8.
43. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-64.
44. Vorsanova SG, Iurov II, Kurinnaia OS, Voinova VI, Iurov IB. Genomic abnormalities in children with mental retardation and autism: the use of comparative genomic hybridization in situ (HRCGH) and molecular karyotyping with DNA-microchips (array CGH). Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(8):46-9.
45. Iourov IY, Vorsanova SG, Voinova VY, Kurinnaia OS, Zelenova MA, Demidova IA, et al. Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Mol Cytogenet. 2013;6:53.
46. Vorsanova SG, Iurov II, Voinova VI, Kurinnaia OS, Zelenova MA, Demidova IA, et al. Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations. Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(10):47-52.
47. Iourov IY, Vorsanova SG, Saprina EA, Yurov YB. Identification of candidate genes of autism on the basis of molecular cytogenetic and in silico studies of the genome organization of chromosomal regions involved in unbalanced rearrangements. Russ J Genet. 2010;46(10):1190-3.
48. Cline MS, Smoot M, Cerami E, Kuchinsky A, Landys N, Workman C, et al. Integration of biological networks and gene expression data using Cytoscape. Nat Protoc. 2007;2(10):2366-82.