High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

Human Mutation

Volumn 32, Issue 1, 2011, Pages 91-97

  Busse, Tracy ^a   Graham, John M ^b   Feldman, Gerald ^c   Perin, Juan ^a   Catherwood, Anne ^a   Knowlton, Robert ^a   Rappaport, Eric F ^a   Emanuel, Beverly ^a,d   Driscoll, Deborah A ^a,d   Saitta, Sulagna C ^a,d  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Chromosome 22q11.2; CNV; DiGeorge Syndrome; Genomic disorder; Microarray

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CHROMOSOME 5Q; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; DNA DETERMINATION; FEMALE; GENETIC ASSOCIATION; GENOMICS; HUMAN; MALE; MICROARRAY ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

22Q11 DELETION SYNDROME; CHROMOSOME DELETION; DIGEORGE SYNDROME; DNA COPY NUMBER VARIATIONS; FEMALE; GENOME, HUMAN; GENOTYPE; HUMANS; MALE; MICROARRAY ANALYSIS; PHENOTYPE;

EID: 78650437222     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21395     Document Type: Article

References (27)

1. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ. 1990. Basic local alignment search tool. J Mol Biol 215:403-410.
2. Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham Jr JM, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39:1071-1073.
3. Bentires-Alj M, Kontaridis MI, Neel BG. 2006. Stops along the RAS pathway in human genetic disease. Nat Med 12:283-285.
4. Chen CP, Lin SP, Lin CC, Chen YJ, Chern SR, Li YC, Hsieh LJ, Lee CC, Pan CW, Wang W. 2006. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. Am J Med Genet A 140:1594-1600.
5. Devriendt K, Swillen A, Fryns JP. 1998. Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Genet 53:408-410.
6. Emanuel BS, Budarf ML, Sellinger B, Goldmuntz E, Driscoll DA. 1992. Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge syndrome (DGS), velo-cardio facial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations. Am J Hum Genet 51(Suppl.):A3.
7. Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH. 2001. The 22q11.2 deletion syndrome. Adv Pediatr 48:39-73.
8. Emanuel BS, Saitta SC. 2007. From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet 8:869-883.
9. Emanuel BS, Shaikh TH. 2001. Segmental duplications: an "expanding" role in genomic instability and disease. Nat Rev Genet 2:791-800.
10. Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW. 2010. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet 18:258-261.
11. Gai X, Perin JC, Murphy K, O'Hara R, D'arcy M, Wenocur A, Xie HM, Rappaport EF, Shaikh TH, White PS. 2010. CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. BMC Bioinformatics 11:74.
12. Gelb BD, Tartaglia M. 2006. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet 15:R220-R226.
13. Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. 2008. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat 29:433-440.
14. Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M. 2007. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 81:987-994.
15. Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T. 2007. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet 50:33-42.
16. Koga M, Ishiguro H, Yazaki S, Horiuchi Y, Arai M, Niizato K, Iritani S, Itokawa M, Inada T, Iwata N, Ozaki N, Ujike H, Kunugi H, Sasaki T, Takahashi M, Watanabe Y, Someya T, Kakita A, Takahashi H, Nawa H, Muchardt C, Yaniv M, Arinami T. 2009. Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia. Hum Mol Genet 18:2483-2494.
17. Kurihara Y, Kurihara H, Oda H, Maemura K, Nagai R, Ishikawa T, Yazaki Y. 1995. Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1. J Clin Invest 96:293-300.
18. Kurihara Y, Kurihara H, Suzuki H, Kodama T, Maemura K, Nagai R, Oda H, Kuwaki T, Cao WH, Kamada N, Jishage K, Ouchi Y, Azuma S, Toyoda Y, Ishikawa T, Kumada M, Yazaki Y. 1994. Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 368:703-710. Comment in: Nature 1994;372:50; Nature 1994;368:693-694.
19. McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J, Paris Y, Weinberg P, Clark III BJ, Emanuel BS, Zackai EH. 1995. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 59:103-113.
20. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. 2010. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749-764.
21. Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. 2008. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet 82:1171-1177. Erratum in: Am J Hum Genet 84:301.
22. Newbern J, Zhong J, Wickramasinghe RS, Li X, Wu Y, Samuels I, Cherosky N, Karlo JC, O'Loughlin B, Wikenheiser J, Gargesha M, Doughman YQ, Charron J, Ginty DD, Watanabe M, Saitta SC, Snider WD, Landreth GE. 2008. Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development. Proc Natl Acad Sci USA 105:17115-17120.
23. Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE, Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, Opitz JM, Muenke M. 1995. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet 11:459-461.
24. Robin NH, Opitz JM, Muenke M. 1996. Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am J Med Genet 62:305-317.
25. Samuels IS, Saitta SC, Landreth GE. 2009. MAP'ing CNS development and cognition: an ERKsome process. Neuron 61:160-167.
26. Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC. 2007. Low copy repeats mediate distal chromosome 22q11. 2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res 17:482-491.
27. Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. 2003. Role of TBX1 in human del22q11.2 syndrome. Lancet 362:1366-1373. Comment in: Lancet 362:1342-1343.