Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 3, 2012, Pages 574-580

  Breckpot, Jeroen ^a   Thienpont, Bernard ^a,b   Bauters, Marijke ^c   Tranchevent, Leon Charles ^d   Gewillig, Marc ^a   Allegaert, Karel ^a   Vermeesch, Joris R ^a   Moreau, Yves ^d   Devriendt, Koenraad ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b BABRAHAM INSTITUTE   (United Kingdom)

^c Department for Molecular and Developmental Genetics ^*  (Belgium)

^d Katholieke Universiteit Leuven   (Belgium)

Author keywords

22q11 deletion; Congenital heart defects; CRKL; ERK2; LCR22; MAPK1; Prioritization

Indexed keywords

ARTICLE; CASE REPORT; CESAREAN SECTION; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11.2; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CONVERGENT STRABISMUS; CRKL GENE; FACE DYSMORPHIA; FEMALE; FETUS; FETUS DISTRESS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GROWTH DISORDER; HEART CATHETERIZATION; HEART SURGERY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN CELL; INFANT; LUNG ARTERY BANDING; MAPK1 GENE; MICROCEPHALY; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; TRICUSPID VALVE REGURGITATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MITOGEN-ACTIVATED PROTEIN KINASE 1; NUCLEAR PROTEINS;

EID: 84857111680     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35217     Document Type: Article

References (36)

1. Aerts S, Lambrechts D, Maity S, Van Loo P, Coessens B, De Smet F, Tranchevent LC, De Moor B, Marynen P, Hassan B, Carmeliet P, Moreau Y. 2006. Gene prioritization through genomic data fusion. Nat Biotechnol 24: 537- 544.
2. Barriot R, Breckpot J, Thienpont B, Brohee S, Van Vooren S, Coessens B, Tranchevent LC, Van Loo P, Gewillig M, Devriendt K, Moreau Y. 2010. Collaboratively charting the gene-to-phenotype network of human congenital heart defects. Genome Med 2: 16.
3. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. 2005. Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet Part A 138A: 307- 313.
4. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. 2008. 22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 82: 214- 221.
5. Busse T, Graham JM Jr, Feldman G, Perin J, Catherwood A, Knowlton R, Rappaport EF, Emanuel B, Driscoll DA, Saitta SC. 2011. High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome. Hum Mutat 32: 91- 97.
6. Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapti R, Morrow BE. 1997. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61: 620- 629.
7. Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE. 1999. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8: 1157- 1167.
8. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. 2003. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73: 1027- 1040.
9. Garcia-Minaur S, Fantes J, Murray RS, Porteous ME, Strain L, Burns JE, Stephen J, Warner JP. 2002. A novel atypical 22q11.2 distal deletion in father and son. J Med Genet 39: E62.
10. Guris DL, Duester G, Papaioannou VE, Imamoto A. 2006. Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Dev Cell 10: 81- 92.
11. Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A. 2001. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet 27: 293- 298.
12. Halford S, Lindsay E, Nayudu M, Carey AH, Baldini A, Scambler PJ. 1993. Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum Mol Genet 2: 191- 196.
13. Hu T, Yamagishi H, Maeda J, McAnally J, Yamagishi C, Srivastava D. 2004. Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Development 131: 5491- 5502.
14. Lima K, Abrahamsen TG, Wolff AB, Husebye E, Alimohammadi M, Kampe O, Folling I. 2011. Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome. Eur J Endocrinol 165: 345- 352.
15. Lorenz K, Schmitt JP, Schmitteckert EM, Lohse MJ. 2009. A new type of ERK1/2 autophosphorylation causes cardiac hypertrophy. Nat Med 15: 75- 83.
16. McDermid HE, Morrow BE. 2002. Genomic disorders on 22q11. Am J Hum Genet 70: 1077- 1088.
17. Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz de Stahl T, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ. 2007. A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet Part A 143A: 2178- 2184.
18. Momma K. 2010. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 105: 1617- 1624.
19. Moon AM, Guris DL, Seo JH, Li L, Hammond J, Talbot A, Imamoto A. 2006. Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. Dev Cell 10: 71- 80.
20. 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.
21. Ogilvie CM, Ahn JW, Mann K, Roberts RG, Flinter F. 2009. A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: A case report. Mol Cytogenet 2: 9.
22. Qiao Y, Harvard C, Tyson C, Liu X, Fawcett C, Pavlidis P, Holden JJ, Lewis ME, Rajcan-Separovic E. 2010. Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics. Hum Genet 128: 179- 194.
23. Rauch A, Pfeiffer RA, Leipold G, Singer H, Tigges M, Hofbeck M. 1999. A novel 22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet 64: 659- 666.
24. Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Huffmeier U, Weyand M, Singer H, Hofbeck M. 2005. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet 42: 871- 876.
25. Rodningen OK, Prescott T, Eriksson AS, Rosby O. 2008. 1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype. Eur J Med Genet 51: 646- 650.
26. Saitta SC, McGrath JM, Mensch H, Shaikh TH, Zackai EH, Emanuel BS. 1999. A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet 65: 562- 566.
27. Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. 2000. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum Mol Genet 9: 489- 501.
28. 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.
29. Theveniau-Ruissy M, Dandonneau M, Mesbah K, Ghez O, Mattei MG, Miquerol L, Kelly RG. 2008. The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning. Circ Res 103: 142- 148.
30. Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K. 2007. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 28: 2778- 2784.
31. Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Mollgard K, Tommerup N, Bache I, Tumer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA. 2010. Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet 86: 839- 849.
32. Tranchevent LC, Barriot R, Yu S, Van Vooren S, Van Loo P, Coessens B, De Moor B, Aerts S, Moreau Y. 2008. ENDEAVOUR update: A web resource for gene prioritization in multiple species. Nucleic Acids Res 36: W377- W384.
33. Verhoeven W, Egger J, Brunner H, de Leeuw N. 2011. A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder. Am J Med Genet Part A 155A: 392- 397.
34. Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A. 2002. A genetic link between Tbx1 and fibroblast growth factor signaling. Development 129: 4605- 4611.
35. Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Katamani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. 2003. Role of TBX1 in human del22q11.2 syndrome. Lancet 362: 1366- 1373.
36. Yamagishi C, Hierck BP, Gittenberger-De Groot AC, Yamagishi H, Srivastava D. 2003. Functional attenuation of UFD1l, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos. Pediatr Res 53: 546- 553.