Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

European Journal of Medical Genetics

Volumn 53, Issue 2, 2010, Pages 55-60

  Draaken, Markus ^a   Reutter, Heiko ^a   Schramm, Charlotte ^a   Bartels, Enrika ^a   Boemers, Thomas M ^b   Ebert, Anne Karoline ^c   Rösch, Wolfgang ^c   Schröder, Annette ^d   Stein, Raimund ^d   Moebus, Susanne ^e   Stienen, Dietlinde ^a   Hoffmann, Per ^a   Nöthen, Markus M ^a   Ludwig, Michael ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Children's Hospital   (Germany)

^c UNIVERSITY OF REGENSBURG   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

22q11.21; Bladder exstrophy; EEC; Microduplication; MLPA; Molecular karyotyping; SNP array

Indexed keywords

ADULT; ARTICLE; BLADDER EXSTROPHY; CAT EYE SYNDROME; CHILD; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CONTROLLED STUDY; DER(22) SYNDROME; DIGEORGE SYNDROME; DISEASE PREDISPOSITION; FEMALE; GENE REARRANGEMENT; GENOME; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; SCHOOL CHILD; SEQUENCE OF CONGENITAL DEFECTS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BLADDER EXSTROPHY; CHILD; CHROMOSOMES; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; GENE DUPLICATION; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KARYOTYPING; MALE; MOLECULAR PROBE TECHNIQUES; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77950629694     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.12.005     Document Type: Article

References (33)

1. Anonymous. Epidemiology of bladder exstrophy and epispadias: a communication from the international clearinghouse for birth defects monitoring systems. Teratology 36 (1987) 221-227
2. Birnbaum S., Ludwig K.U., Reutter H., Herms S., Steffen M., Rubini M., et al. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat. Genet. 4 (2009) 473-477
3. Blandino G., and Moll U.M. p63 regulation by microRNAs. Cell Cycle 8 (2009) 1466-1467
4. Carey J.C. Exstrophy of the cloaca and the OEIS complex: one and the same. Am. J. Med. Genet. 99 (2001) 270
5. Cheng W., Jacobs W.B., Zhang J.J., Moro A., Park J.H., Kushida M., et al. ΔNp63 plays an anti-apoptotic role in ventral bladder development. Development 133 (2006) 4783-4792
6. Colella S., Yau C., and Taylor J.M. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res. 35 (2007) 2013-2025
7. Edelmann L., Pandita R.K., Spiteri E., Funke B., Goldberg R., Palanisamy N., et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 8 (1999) 1157-1167
8. Ensenauer R.E., Adeyinka A., Flynn H.C., Michels V.V., Lindor N.M., Dawson D.B., et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am. J. Hum. Genet. 73 (2003) 1027-1040
9. Gearhart J.P. Exstrophy, epispadias, and other bladder anomalies. In: Walsh P.C., Retik A.B., Vaughan E.D., and Wein A.J. (Eds). Campbell's Urology. eighth ed. (2002), WB Saunders Co, Philadelphia 2136-2196
10. Iafrate A.J., Feuk L., Rivera M.N., Listewnik M.L., Donahoe P.K., Qi Y., Scherer S.W., and Lee C. Detection of large-scale variation in the human genome. Nat. Genet. 36 (2004) 949-951
11. Ince T.A., Cviko A.P., Quade B.J., Yang A., McKeon F.D., Mutter G.L., and Crum C.P. p63 coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract. Am. J. Pathol. 161 (2002) 1111-1117
12. Jalali G.R., Vorstman J.A., Errami A., Vijzelaar R., Biegel J., Shaikh T., and Emanuel B.S. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum. Mutat. 29 (2008) 433-440
13. Kelley R.I., Zackai E.H., Emanuel B.S., Kistenmacher M., Greenberg F., and Punnett H.H. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J. Pediatr. 101 (1982) 197-200
14. Liao J., Kochilas L., Nowotschin S., Arnold J.S., Aggarwal V.S., Epstein J.A., et al. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum. Mol. Genet. 13 (2004) 1577-1585
15. Ludwig M., Ching B., Reutter H., and Boyadjiev S.A. Bladder exstrophy-epispadias complex. Birth Defects Res. A Clin. Mol. Teratol. 85 (2009) 509-522
16. McDonald-McGinn D.M., Tonnesen M.K., Laufer-Cahana A., Finucane B., Driscoll D.A., Emanuel B.S., and Zackai E.H. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!. Genet. Med. 3 (2001) 23-29
17. Nelson C.P., Dunn R.L., and Wei J.T. Contemporary epidemiology of bladder exstrophy in the United States. J. Urol. 173 (2005) 1728-1731
18. Paylor R., Glaser B., Mupo A., Ataliotis P., Spencer C., Sobotka A., et al. TBX1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc. Natl. Acad. Sci. U S A 103 (2006) 7729-7734
19. Portnoï M.F. Microduplication 22q11.2: a new chromosomal syndrome. Eur. J. Med. Genet. 52 (2009) 88-93
20. Reutter H., Bökenkamp A., Ebert A.K., Rösch W., Boemers T.M., Nöthen M.M., and Ludwig M. Possible association of down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature. Eur. J. Pediatr. 168 (2009) 881-883
21. Reutter H., Shapiro E., and Gruen J.R. Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature. Am. J. Med. Genet. A 120A (2003) 215-221
22. Reutter H., Qi L., Gearhart J.P., Boemers T., Ebert A.K., Rösch W., Ludwig M., and Boyadjiev S.A. Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am. J. Med. Genet. A 143A (2007) 2751-2756
23. Schinzel A., Schmid W., Auf der Mauer P., Moser H., Degenhardt K.H., Geisler M., and Grubisic A. In complete trisomy 22.I. Familial 11/22 translocation with 3:1 meiotic disjunction: delineation of a common clinical picture and report of nine new cases from six families. Hum. Genet. 56 (1981) 249-262
24. Schmermund A., Möhlenkamp S., Stang A., Grönemeyer D., Seibel R., Hirche H., et al. Assessment of clinically silent atherosclerotic disease and established and novel risk factors for predicting myocardial infarction and cardiac death in healthy middle-aged subjects: rationale and design of the Heinz Nixdorf RECALL Study. Risk factors, evaluation of coronary calcium and lifestyle. Am. Heart J. 144 (2002) 212-218
25. Shaffer L.G., and Lupski J.R. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu. Rev. Genet. 34 (2000) 297-329
26. Shaikh T.H., O'Connor R.J., Pierpont M.E., McGrath J., Hacker A.M., Nimmakayalu M., et al. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res. 17 (2007) 482-491
27. Shapiro E., Lepor H., and Jeffs R.D. The inheritance of the exstrophy-epispadias complex. J. Urol. 132 (1984) 308-310
28. Shprintzen R.J., Goldberg R.B., Lewin M.L., Sidoti E.J., Berkman M.D., and Argamaso Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 15 (1978) 56-62
29. Tomari Y., and Zamore P.D. MicroRNA biogenesis: drosha can't cut it with a part a partner. Curr. Biol. 15 (2005) R61-R64
30. Torres-Juan L., Rosell J., Morla M., Vidal-Pou C., García-Algas F., de la Fuente M.A., et al. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur. J. Hum. Genet. 15 (2007) 658-663
31. Yagi H., Furutani Y., Hamada H., Sasaki T., Asakawa S., Minoshima S., et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 362 (2003) 1366-1373
32. Zackai E.H., and Emanuel B.S. Site-specific reciprocal translocation t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am. J. Med. Genet. 7 (1980) 507-521
33. Zweier C., Sticht H., Aydin-Yaylagül I., Campbell C.E., and Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am. J. Hum. Genet. 80 (2007) 510-517