Congenital heart defects and 22q11 deletions: Which genes count?

Molecular Medicine Today

Volumn 4, Issue 8, 1998, Pages 350-357

  Lindsay, Elizabeth A ^a   Baldini, Antonio ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AORTA ARCH INTERRUPTION; CHROMOSOME 22Q; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; FALLOT TETRALOGY; GENE DELETION; GENOTYPE; HUMAN; KALLMANN SYNDROME; NONHUMAN; PHENOTYPE; REVIEW; VELOCARDIOFACIAL SYNDROME;

ANIMALS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DISEASE MODELS, ANIMAL; HEART DEFECTS, CONGENITAL; HUMANS; MICE;

ANIMALIA;

EID: 0031850909     PISSN: 13574310     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-4310(98)01302-1     Document Type: Review

References (56)

1. Wilson D.I.et al. Minimum prevalence of chromosome 22q11 deletions. Am. J. Hum. Genet. Suppl. 55:1994;A975.
2. Ryan A.K.et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. Med. Genet. 34:1997;798-804.
3. Lewin M.B., Lindsay E.A., Baldini A. 22q11 deletions and cardiac disease. Prog. Pediatr. Cardiol. 6:1996;19-28.
4. Webber S.A.et al. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J. Pediatr. 129:1996;26-32.
5. Lewin M.B.et al. A genetic etiology for interruption of the aortic arch type B. Am. J. Cardiol. 80:1997;493-497.
6. Mehraein Y.et al. Microdeletion 22q11 in complex cardiovascular malformations. Hum. Genet. 99:1997;433-442.
7. Digilio M.C.et al. Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia. Am. J. Cardiol. 77:1996;1375-1376.
8. Johnson M.C.et al. Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am. J. Cardiol. 76:1995;66-69.
9. Amati F.et al. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum. Genet. 95:1995;479-482.
10. Lammer E.J., Opitz J.M. The DiGeorge anomaly as a developmental field defect. Am. J. Med. Genet. Suppl. 2:1986;113-127.
11. Kirby M.L., Waldo K.L. Neural crest and cardiovascular patterning. Circ. Res. 77:1995;211-215.
12. Conway S.J., Henderson D.J., Copp A.J. Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) mutant. Development. 124:1997;505-514.
13. Budarf M.L., Emanuel B.S. Progress in the segmental aneusomy syndromes (SASs): single or multi-locus disorders? Hum. Mol. Genet. 6:1997;1657-1665.
14. Basson C.T.et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet. 15:1997;30-35.
15. Li Q.Y.et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat. Genet. 15:1997;21-29.
16. Baldwin C.T., Hoth C.F., Macina R.A., Milunsky A. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am. J. Med. Genet. 58:1995;115-122.
17. Gebbia M.et al. X-linked situs abnormalities result from mutations in ZIC3. Nat. Genet. 17:1997;305-308.
18. Halford S.et al. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Hum. Mol. Genet. 2:1993;2099-2107.
19. Lamour V.et al. A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. Hum. Mol. Genet. 4:1995;791-799.
20. Wilming L.G.et al. The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Hum. Mol. Genet. 6:1997;247-258.
21. Gottlieb S.et al. The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development. Am. J. Hum. Genet. 60:1997;1194-1201.
22. Rivera-Perez J.A.et al. Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development. Development. 121:1995;3005-3012.
23. Yamada G.et al. Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death. Development. 121:1995;2917-2922.
24. Lindsay E.A., Harvey E.L., Scambler P.J., Baldini A. ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene. Hum. Mol. Genet. 7:1998;629-635.
25. Papaioannou V.E. T-box family reunion. Trends Genet. 13:1997;212-213.
26. Chapman D.L.et al. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev. Dyn. 206:1996;379-390.
27. Aubry M.et al. Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Hum. Mol. Genet. 2:1993;1583-1587.
28. Kurahashi H.et al. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum. Mol. Genet. 4:1995;541-549.
29. Demczuk S.et al. Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum. Mol. Genet. 4:1995;551-558.
30. Wadey R.et al. Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum. Mol. Genet. 4:1995;1027-1033.
31. Taylor C.et al. Cloning and mapping of murine Dgcr2 and its homology to the Sez-12 seizure-related protein. Mamm. Genome. 8:1997;371-375.
32. Rizzu P.et al. Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and velocardiofacial syndromes conserved in C. elegans. Mamm. Genome. 7:1996;639-643.
33. Gong W.et al. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Mol. Hum. Genet. 5:1996;789-800.
34. Lindsay E.A.et al. A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. Genomics. 32:1996;104-112.
35. Kedra D.et al. Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11. Hum. Mol. Genet. 5:1996;625-631.
36. Sirotkin H.et al. Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. Hum. Mol. Genet. 5:1996;617-624.
37. Holmes S.E.et al. Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. Hum. Mol. Genet. 6:1997;357-367.
38. Lindsay E.A.et al. Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics. 17:1993;403-407.
39. Levy A.et al. Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum. Mol. Genet. 4:1995;2417-2419.
40. Kurahashi H.et al. Another critical region for deletion of 22q11: a study of 100 patients. Am. J. Med. Genet. 72:1997;180-185.
41. Schmickel R.D. Contiguous gene syndromes: a component of recognizable syndromes. J. Pediatr. 109:1986;231-241.
42. Ballabio A.et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc. Natl. Acad. Sci. U. S. A. 86:1989;10001-10005.
43. Kishino T., Lalande M., Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat. Genet. 15:1997;70-73.
44. Matsuura T.et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat. Genet. 15:1997;74-77.
45. Li L.et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat. Genet. 16:1997;243-251.
46. Oda T.et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat. Genet. 16:1997;235-242.
47. Gong W.et al. Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Hum. Mol. Genet. 6:1997;267-276.
48. Gottlieb S.et al. The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development. Am. J. Hum. Genet. 60:1997;1194-1201.
49. Shapira M.et al. Deletion of the short arm of chromosome 10 (10p13): report of a patient and review. Am. J. Med. Genet. 52:1994;34-38.
50. Bedell M.A., Jenkins N.A., Copeland N.G. Mouse models of human disease. Part II: recent progress and future directions. Genes Dev. 11:1997;11-43.
51. Ramirez-Solis R., Liu P., Bradley A. Chromosome engineering in mice. Nature. 378:1995;720-724.
52. Smith A.J.et al. A site-directed chromosomal translocation induced in embryonic stem cells by Cre-loxP recombination. Nat. Genet. 9:1995;376-385.
53. Galili N.et al. A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region. Genome Res. 7:1997;17-26.
54. Botta A., Lindsay E.A., Jurecic V., Baldini A. Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation. Mamm. Genome. 8:1997;890-895.
55. Puech A.et al. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. Proc. Natl. Acad. Sci. U. S. A. 94:1997;14608-14613.
56. Ferencz, C. and Neill, C.A. (1992) Cardiovascular malformations: prevalence at live birth, in Neonatal Heart Disease (Freedom, R.M., Benson, L.N. and Smallhorn, J.F., eds), pp. 19-27, Springer-Verlag.