Genetic disorders of cardiac morphogenesis: The DiGeorge and velocardiofacial syndromes

Circulation Research

Volumn 80, Issue 4, 1997, Pages 437-443

  Goldmuntz, Elizabeth ^a,b   Emanuel, Beverly S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

chromosome 22; conotruncal defects; DiGeorge syndrome; microdeletion syndrome; velocardiofacial syndrome

Indexed keywords

CHROMOSOME 22Q; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; MALFORMATION SYNDROME; MONOSOMY; NEURAL CREST; PHENOTYPE; PRIORITY JOURNAL; REVIEW; VELOCARDIOFACIAL SYNDROME;

EID: 0030909698     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.80.4.437     Document Type: Review

References (64)

1. DiGeorge AM. Discussion on a new concept of the cellular basis of immunology. J Pediatr. 1965;67:907-908.
2. Conley ME, Beckwith JB, Mancer JFK, Tenckhoff I. The spectrum of DiGeorge syndrome. J Pediatr. 1979;94:883-890.
3. Van Mierop LHS, Kutsche LM. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possibe pathogenetic factor. Am J Cardiol. 1986;58:133-157.
4. Lammer EJ, Opitz JM. The DiGeorge anomaly as a developmental field defect. Am J Med Genet. 1986;2(suppl):113-127.
5. Kirby ML, Gale TF, Stewart DE. Neural crest cells contribute to aorticopulmonary septation. Science. 1983;220:1059-1061.
6. Kirby ML. Plasticity and predetermination of mesencephalic and trunk neural crest transplanted into the region of the cardiac neural crest. Dev Biol. 1989;134:402-412.
7. Bockman DE, Redmond ME, Kirby ML. Alteration of early vascular development after ablation of cranial neural crest. Anat Rec. 1989;225:209-217.
8. Fukiishi Y, Morriss-Kay GM. Migration of cranial neural crest cells to the pharyngeal arch and heart in rat embryos. Cell Tissue Res. 1992;268:1-8.
9. de la Chapelle A, Herva R, Koivisto M, Aula O. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet. 1981;57:253-256.
10. Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH. The association of the DiGeorge anomaly with partial monosomy of chromosome 22. J Pediatr. 1982;101:197-200.
11. Greenberg F, Elder FFB, Haffner P, Northrup H, Ledbetter DH. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet. 1988;43:605-611.
12. Driscoll DA, Budarf ML, McDermid H, Emanuel BS. Molecular analysis of DiGeorge syndrome: 22q11 interstitial deletions. Am J Hum Genet. 1990;47:(suppl):A215. Abstract.
13. Scambler PJ, Carey AH, Wyse RKH, Roach S, Dumanski JP, Nordenskjold M, Williamson R. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics. 1991;10:201-206.
14. Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992;50:924-933.
15. Lindsay EA, Rizzu P, Antonacci R, Jurecic V, Delas-Mata J, Lee C-C, Kim U-J, Scambler PJ, Baldini A. A transcription map in the CATCH22 critical region: identification, mapping, and order of four novel transcripts expressed in heart. Genomics. 1996;32: 104-112.
16. Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML. A transcriptional map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum Mol Genet. 1996;5:789-800.
17. Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate Craniofac J. 1978;5:56-62.
18. Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics. 1981;67:167-172.
19. Young D, Shprintzen RJ, Goldberg RB. Cardiac malformations in the velo-cardio-facial syndrome. Am J Cardiol. 1980;46:643-647.
20. Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, Mascarello JT, Emanuel BS. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet. 1996;44:261-268.
21. Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler RJ. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet. 1993;45:308-312.
22. Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald- McGinn DM, Biegel JA, Emanuel BS. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet. 1993;30:807-812.
23. Goldmuntz E, Driscoll DA, Emanuel BS. Diagnosis of chromosome 22 microdeletions in patients with conotruncal defects. Circulation. 1993;88(suppl I):I-289. Abstract.
24. Lipson A, Emanuel B, Colley P, Fagan K, Driscoll DA. CATCH 22 sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcemia: CATCH 22: a common result of 22q11 deficiency? J Med Genet. 1994;31:741.
25. McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH. Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics. In press.
26. Melchionda S, Digilio MC, Mingarelli R, Novelli G, Scambler P, Marino B, Dallapiccola B. Transposition of the great arteries associated with deletion of chromosome 22q11. Am J Cardiol. 1995;75: 95-98.
27. Johnson MC, Strauss AW, Dowton SB, Soray TL, Huddleston CB, Wood MK, Slaugh RA, Watson MS. Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiol. 1995;76:66-69.
28. Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet. 1993;30:822-824.
29. Matsuoka R, Takao A, Kimura M, Imamura S-I, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet. 1994;53:285-289.
30. Wilson DI, Britton SB, McKeown C, Kelly D, Cross IE, Strobel S, Scambler PJ. Noonan's and DiGeorge syndromes with monosomy 22q11. Arch Dis Child. 1993;68:187-189.
31. Robin NH, Sellinger B, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA. Classical Noonan syndrome is not associated with deletions of 22q11. Am J Med Genet. 1995;56:94-96.
32. McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lync D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J, Paris Y, Weinberg P, Clark BJ III, Emanuel BS, Zackai EH. Autosomal dominant 'Opitz' GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet. 1995;59:103-113.
33. Desmaze C, Prieur M, Amblard F, Aikem M, LeDesit F, Demczuk S, Zucman J, Plougastel B, Delattre O, Croquette M-F, Breviere G-M, Huon C, Le Merrer M, Mathieu M, Sidi D, Stephan J-L, Aurias AA. Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Am J Hum Genet. 1993;53:1239-1249.
34. Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A. Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet. 1995;56:191-197.
35. Morrow B, Goldberg R, Carlson C, Gupta RD, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, Kucherlapati R. Molecular definition of 22q11 deletions in velocardio-facial syndrome. Am J Hum Genet. 1995;56:1391-1403.
36. Driscoll DA, Li M, Chien P, Capuano S, Zackai EH, McDonald- McGinn DM, Christensen KM, Cuneo BF, Saal MH, Gold R, Spector EB, Emanuel BS, Budarf ML. Familial 22q11 deletions: phenotypic variability and determination of deletion boundaries by FISH. Am J Hum Genet. 1995;57:A33. Abstract.
37. Kurahashi H, Nakayama T, Osugi Y, Tsuda E, Masuno M, Imaizumi K, Kamiya T, Sano T, Okada S, Nishisho I. Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region. Am J Hum Genet. 1996;58:1377-1381.
38. Halford S, Lindsay E, Nayudu M, Carey AH, Baldini A, Scamber PJ. Low-copy-number repeat sequences flank the DiGeorge/velocardio-facial syndrome loci at 22q11. Hum Mol Genet. 1993;2: 191-196.
39. Halford S, Wadey R, Roberts C, Daw SCM, Whiting JA, O'Donnell J, Dunham I, Bentley D, Lindsay E, Baldini A, Francis F, Lehrach H, Williamson R, Wilson DI, Goodship J, Cross I, Burn J, Scamber PJ. 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. 1993;2: 2099-2107.
40. Jaquez M, Driscoll DA, Li M, Emanuel BS, Hernandez I, Jaquez F, Lembert N, Ramirez J, Matalon R. Unbalanced (15;22) translocation in a patient with features of both DiGeorge and velocardiofacial syndrome. Am J Med Genet. In press.
41. Augusseau S, Jouk S, Prieur. DiGeorge syndrome and 22q11 rearrangements. Hum Genet. 1986;74:206.
42. Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet. 1995;10:269-278.
43. Levy A, Demczuk S, Aurias A, Depetris D, Mattei M-G, Phillip N. Interstitial 22q11 microdeletion excluding ADU breakpoint in a patient with DiGeorge syndrome. Hum Mol Genet. 1995;4:2417-2419.
44. Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A. 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. 1995;4:551-558.
45. Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J, Scambler P. Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum Mol Genet. 1995;4:1027-1033.
46. Uberbacher EC, Mural RJ. Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc Natl Acad Sci U S A. 1991;88:11261-11265.
47. Goldmuntz E, Wang Z, Roe BA, Budarf ML. Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. Genomics. 1996;33:271-276.
48. Grossman MH, Emanuel BS, Budarf ML. Chromosomal mapping of the human catechol-o-methyltransferase gene to 22q11.11-11.2. Genomics. 1992;12:822-825.
49. Halford S, Wilson DI, Daw SCM, Roberts C, Wadey R, Kamath S, Wickremasinghe A, Burn J, Goodship J, Mattei M-G, Moormon AFM, Scambler PJ. Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Hum Mol Genet. 1993;2:1577-1582.
50. Kurahashi H, Akagi K, Inazawa J, Ohta T, Niikawa N, Kayatani F, Sano T, Okada S, Nishisho I. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum Mol Genet. 1995;4:541-549.
51. Budarf ML, Konkle BA, Lulow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zactai EH, Driscoll DA. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet. 1995;4:763-766.
52. Aubry M, Demczuk S, Desmaze C, Aikem M, Aurias A, Julien J-P, Rouleau GA. Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Hum Mol Genet. 1993;2:1583-1587.
53. Lamour V, Lecluse Y, Desmaze C, Spector M, Bodescot M, Aurias A, Osley MA, Lipinski M. A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptionai repressors cloned from the DiGeorge syndrome critical region. Hum Mol Genet. 1995;4:791-799.
54. Sirotkin H, Morrow B, DasGupta R, Goldberg R, Patanjali SR, Shi G, Cannizzaro L, Shprintzen R, Weissman SM, Kucherlapati R. 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. 1996;5:617-624.
55. Kedra D, Peyrard M, Fransson I, Collins JE, Dunham I, Roe BA, Dumanski JP. Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11. Hum Mol Genet. 1996;5:625-631.
56. Demczuk S, Thomas G, Aurias A. Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Droscophila gdl and to human LAMC1 genes. Hum Mol Genet. 1996;5:633-638.
57. Bucan M, Gatalica B, Nolan P, Chung A, Leroux A, Grossman MH, Nadeau J, Emanuel BS, Budarf M. Comparative map of 9 chromosome 22q loci in the laboratory mouse. Hum Mol Genet. 1993;2:1245-1252.
58. Mattei MG, Halford S, Scambler PJ. Mapping of the Tuple1 gene to mouse chromosome 16A-B1. Genomics. 1994;23:717-718.
59. Reeves RH, Irving NG, Miller RD. Mouse chromosome 16. Mamm Genome. 1993;4:S223-S229.
60. Franz T. Persistent truncus arteriosus in the Splotch mutant mouse. Anat Embryol. 1989;180:457-464.
61. Morrison-Graham K, Schatteman GC, Bork T, Bowen-Pope DF, Weston JA. A PDGF receptor mutation in the mouse (Patch) perturbs the development of a non-neuronal subset of neural crest- derived cells. Development. 1992;115:133-142.
62. Kurihara Y, Kurihara H, Oda H, Maemura K, Nagai R, Ishikawa T, Yazaki Y. Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1. J Clin Invest. 1995;96:293-300.
63. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet. 1993;30:813-817.
64. Daw SCM, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scampler P. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet. 1996;13:458-460.