BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Brunet, Anna ^a,b   Armengol, Lluís ^a   Heine, Damià ^c   Rosell, Jordi ^c   García Aragonés, Manel ^a   Gabau, Elisabeth ^b   Estivill, Xavier ^a,d   Guitart, Miriam ^b  

^a CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^b PARC TAULÍ HOSPITAL UNIVERSITARI   (Spain)

^c HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^d UNIVERSITAT POMPEU FABRA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHILD; CHROMOSOME 10Q; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PHENOTYPE; SCHIZOPHRENIA; VELOCARDIOFACIAL SYNDROME; CHROMOSOME 1; CHROMOSOME 22; CHROMOSOME MAP; DIGEORGE SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENETICS; HUMAN GENOME; PRESCHOOL CHILD;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; FEMALE; GENE DOSAGE; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; YOUNG ADULT;

EID: 74549171440     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-144     Document Type: Article

References (47)

1. McDermid HE, Morrow BE. Genomic disorders on 22q11. Am J Hum Genet 2002, 70(5):1077-1088. 10.1086/340363, 447586, 11925570.
2. Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003, 112(1 Pt 1):101-107. 10.1542/peds.112.1.101, 12837874.
3. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997, 34(10):798-804. 10.1136/jmg.34.10.798, 1051084, 9350810.
4. Cohen E, Chow EW, Weksberg R, Bassett AS. Phenotype of adults with the 22q11 deletion syndrome: A review. Am J Med Genet 1999, 86(4):359-365. 10.1002/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2-V, 10494092.
5. Gerdes M, Solot C, Wang PP, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark BJ, Driscoll DA, Jawad A, et al. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 1999, 85(2):127-133. 10.1002/(SICI)1096-8628(19990716)85:2<127::AID-AJMG6>3.0.CO;2-F, 10406665.
6. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 2007, 14(3):136-139. 10.1016/j.spen.2007.07.005, 17980310.
7. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007, 370(9596):1443-1452. 10.1016/S0140-6736(07)61601-8, 17950858.
8. Perez E, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 2002, 14(6):678-683. 10.1097/00008480-200212000-00005, 12436034.
9. Robin NH, Shprintzen RJ. Defining the clinical spectrum of deletion 22q11.2. J Pediatr 2005, 147(1):90-96. 10.1016/j.jpeds.2005.03.007, 16027702.
10. Frohn-Mulder IM, Wesby Swaay E, Bouwhuis C, Van Hemel JO, Gerritsma E, Niermeyer MF, Hess J. Chromosome 22q11 deletions in patients with selected outflow tract malformations. Genet Couns 1999, 10(1):35-41.
11. Sivertsen A, Lie RT, Wilcox AJ, Abyholm F, Vindenes H, Haukanes BI, Houge G. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. Am J Med Genet A 2007, 143(2):129-134.
12. Smith A, St Heaps L, Robson L. Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH. Am J Med Genet 2002, 113(4):346-350. 10.1002/ajmg.10800, 12457406.
13. Katzman PJ, Wang B, Sawhney M, Wang N. Differential detection of deletion 22q11.2 syndrome by specialty and indication. Pediatr Dev Pathol 2005, 8(5):557-567. 10.1007/s10024-005-0056-1, 16222476.
14. Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballin MR, Guitart M. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. Am J Med Genet A 2006, 140(22):2426-2432.
15. Fernandez L, Lapunzina P, Pajares IL, Palomares M, Martinez I, Fernandez B, Quero J, Garcia-Guereta L, Garcia-Alix A, Burgueros M, et al. Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion. Am J Med Genet A 2008, 146A(9):1134-1141. 10.1002/ajmg.a.32256, 18384142.
16. Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 1996, 13(4):458-460. 10.1038/ng0896-458, 8696341.
17. Van Esch H, Groenen P, Fryns JP, Ven W, Devriendt K. The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. Genet Couns 1999, 10(1):59-65.
18. Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. Am J Med Genet 2000, 91(4):313-317. 10.1002/(SICI)1096-8628(20000410)91:4<313::AID-AJMG13>3.0.CO;2-U, 10766989.
19. Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 2003, 362(9393):1366-1373. 10.1016/S0140-6736(03)14632-6, 14585638.
20. Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet 2007, 80(3):510-517. 10.1086/511993, 1821102, 17273972.
21. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, et al. BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A 2006, 140(3):205-211.
22. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004, 41(4):241-248. 10.1136/jmg.2003.017731, 1735726, 15060094.
23. Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 2007, 28(22):2778-2784. 10.1093/eurheartj/ehl560, 17384091.
24. Vissers LE, Veltman JA, van Kessel AG, Brunner HG, et al. Identification of disease genes by whole genome CGH arrays. Hum Mol Genet 2005, 14(Spec No 2):R215-223. 10.1093/hmg/ddi268, 16244320.
25. Cusco I, del Campo M, Vilardell M, Gonzalez E, Gener B, Galan E, Toledo L, Perez-Jurado LA. Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration. BMC Med Genet 2008, 9:27. 10.1186/1471-2350-9-27, 2358878, 18405349.
26. Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, et al. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 2003, 36(4):361-374. 10.1002/gcc.10155, 12619160.
27. Wang NJ, Liu D, Parokonny AS, Schanen NC. High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 2004, 75(2):267-281. 10.1086/422854, 1216061, 15197683.
28. Pantano L, Armengol L, Villatoro S, Estivill X. ProSeeK: A web server for MLPA probe design. BMC Genomics 2008, 9(1):573. 10.1186/1471-2164-9-573, 2625369, 19040730.
29. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30(12):e57. 10.1093/nar/gnf056, 117299, 12060695.
30. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008, 359(16):1685-1699. 10.1056/NEJMoa0805384, 2703742, 18784092.
31. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet 2004, 36(9):949-951. 10.1038/ng1416, 15286789.
32. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, et al. Global variation in copy number in the human genome. Nature 2006, 444(7118):444-454. 10.1038/nature05329, 2669898, 17122850.
33. Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res 2004, 94(11):1429-1435. 10.1161/01.RES.0000130528.72330.5c, 15117819.
34. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008, 320(5875):539-543. 10.1126/science.1155174, 18369103.
35. Cheroki C, Krepischi-Santos AC, Szuhai K, Brenner V, Kim CA, Otto PA, Rosenberg C. Genomic imbalances associated with mullerian aplasia. J Med Genet 2008, 45(4):228-232. 10.1136/jmg.2007.051839, 18039948.
36. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007, 39(3):319-328. 10.1038/ng1985, 17322880.
37. Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008, 455(7210):232-236. 10.1038/nature07229, 2687075, 18668039.
38. International Schizophrenia Consortium Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008, 455(7210):237-241. 10.1038/nature07239, 18668038, International Schizophrenia Consortium.
39. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008, 40(12):1466-1471. 10.1038/ng.279, 2680128, 19029900.
40. Gu H, Smith FC, Taffet SM, Delmar M. High incidence of cardiac malformations in connexin40-deficient mice. Circ Res 2003, 93(3):201-206. 10.1161/01.RES.0000084852.65396.70, 12842919.
41. Ni X, Valente J, Azevedo MH, Pato MT, Pato CN, Kennedy JL. Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies. J Med Genet 2007, 44(8):532-536. 10.1136/jmg.2006.047944, 17412882.
42. Barbi G, Spaich C, Adolph S, Rossier E, Kehrer-Sawatzki H. Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay. Am J Med Genet A 2005, 132(4):419-424.
43. Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L. FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts. Am J Med Genet 2001, 104(2):157-164. 10.1002/ajmg.10019, 11746048.
44. Giardino D, Bettio D, Gottardi G, Rizzi N, Pierluigi M, Perfumo C, Cali A, Dagna Bricarelli F, Larizza L. FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes. Am J Med Genet 1999, 84(4):377-380. 10.1002/(SICI)1096-8628(19990604)84:4<377::AID-AJMG14>3.0.CO;2-U, 10340656.
45. Ramirez-Duenas ML, Gonzalez GJ. fra(1) (p11), fra(1) (q22) and r(1) (p11q22) in a retarded girl. Ann Genet 1992, 35(3):178-182.
46. Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2007, 80(2):232-240. 10.1086/510919, 1785342, 17236129.
47. Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, Newbury-Ecob RA. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet 2002, 39(12):876-881. 10.1136/jmg.39.12.876, 1757221, 12471199.